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  1. Book ; Online: Jet Flavour Tagging for Future Colliders with Fast Simulation

    Bedeschi, Franco / Gouskos, Loukas / Selvaggi, Michele

    2022  

    Abstract: Jet flavour identification algorithms are of paramount importance to maximise the physics potential of future collider experiments. This work describes a novel set of tools allowing for a realistic simulation and reconstruction of particle level ... ...

    Abstract Jet flavour identification algorithms are of paramount importance to maximise the physics potential of future collider experiments. This work describes a novel set of tools allowing for a realistic simulation and reconstruction of particle level observables that are necessary ingredients to jet flavour identification. An algorithm for reconstructing the track parameters and covariance matrix of charged particles for an arbitrary tracking sub-detector geometries has been developed. Additional modules allowing for particle identification using time-of-flight and ionizing energy loss information have been implemented. A jet flavour identification algorithm based on a graph neural network architecture and exploiting all available particle level information has been developed. The impact of different detector design assumptions on the flavour tagging performance is assessed using the FCC-ee IDEA detector prototype.
    Keywords High Energy Physics - Experiment ; High Energy Physics - Phenomenology
    Subject code 621
    Publishing date 2022-02-07
    Publishing country us
    Document type Book ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.

    Spena, S / Milani, D / Rusconi, D / Negri, G / Colapietro, P / Elcioglu, N / Bedeschi, F / Pilotta, A / Spaccini, L / Ficcadenti, A / Magnani, C / Scarano, G / Selicorni, A / Larizza, L / Gervasini, C

    Clinical genetics

    2014  Volume 88, Issue 5, Page(s) 431–440

    Abstract: The genetic basis of Rubinstein-Taybi syndrome (RSTS), a rare, sporadic, clinically heterogeneous disorder characterized by cognitive impairment and a wide spectrum of multiple congenital anomalies, is primarily due to private mutations in CREBBP ( ... ...

    Abstract The genetic basis of Rubinstein-Taybi syndrome (RSTS), a rare, sporadic, clinically heterogeneous disorder characterized by cognitive impairment and a wide spectrum of multiple congenital anomalies, is primarily due to private mutations in CREBBP (approximately 55% of cases) or EP300 (approximately 8% of cases). Herein, we report the clinical and the genetic data taken from a cohort of 46 RSTS patients, all carriers of CREBBP point mutations. Molecular analysis revealed 45 different gene alterations including 31 inactivating (21 frameshift and 10 nonsense), 10 missense and 4 splicing mutations. Bioinformatic tools and transcript analyses were used to predict the functional effects of missense and splicing alterations. Of the 45 mutations, 42 are unreported and 3 were described previously. Recurrent mutations maybe a key tool in addressing genotype-phenotype correlations in patients sharing the same defects (at the genomic or transcript level) and specific clinical signs, demonstrated here in two cases. The clinical data of our cohort evidenced frequent signs such as arched eyebrows, epicanthus, synophrys and/or frontal hypertrichosis and broad phalanges that, previously overlooked in RSTS diagnosis, now could be considered. Some suggested correlations between organ-specific anomalies and affected CREB-binding protein domains broaden the RSTS clinical spectrum and perhaps will enhance patient follow-up and clinical care.
    MeSH term(s) Adolescent ; Adult ; Amino Acid Sequence ; CREB-Binding Protein/genetics ; Child ; Child, Preschool ; Computer Simulation ; DNA Mutational Analysis ; Female ; Genotype ; Humans ; Infant ; Infant, Newborn ; Male ; Molecular Sequence Data ; Phenotype ; Point Mutation ; Rubinstein-Taybi Syndrome/diagnosis ; Rubinstein-Taybi Syndrome/genetics ; Rubinstein-Taybi Syndrome/metabolism ; Sequence Alignment ; Young Adult
    Chemical Substances CREB-Binding Protein (EC 2.3.1.48) ; CREBBP protein, human (EC 2.3.1.48)
    Language English
    Publishing date 2014-12-09
    Publishing country Denmark
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 221209-2
    ISSN 1399-0004 ; 0009-9163
    ISSN (online) 1399-0004
    ISSN 0009-9163
    DOI 10.1111/cge.12537
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Book ; Online: Superfluid helium testing of a stainless steel to titanium piping transition joint

    Soyars, W. / Basti, A. / Bedeschi, F. / Budagov, J. / Foley, M. / Harms, E. / Klebaner, A. / Nagaitsev, S. / Sabirov, B.

    2012  

    Abstract: Stainless steel-to-titanium bimetallic transitions have been fabricated with an explosively bonded joint. This novel joining technique was conducted by the Russian Federal Nuclear Center, working under contract for the Joint Institute for Nuclear ... ...

    Abstract Stainless steel-to-titanium bimetallic transitions have been fabricated with an explosively bonded joint. This novel joining technique was conducted by the Russian Federal Nuclear Center, working under contract for the Joint Institute for Nuclear Research. These bimetallic transitions are being considered for use in future superconducting radio-frequency cavity cryomodule assemblies. This application requires cryogenic testing to demonstrate that this transition joint remains leak-tight when sealing superfluid helium. To simulate a titanium cavity vessel connection to a stainless steel service pipe, bimetallic transition joints were paired together to fabricate piping assemblies. These piping assemblies were then tested in superfluid helium conditions at Fermi National Accelerator Laboratory test facilities. The transition joint test program will be described. Fabrication experience and test results will be presented.

    Comment: 8 pp. Cryogenic Engineering Conference and International Cryogenic Materials Conference 28 Jun - 2 Jul 2009. Tucson, Arizona
    Keywords Physics - Accelerator Physics ; Physics - Instrumentation and Detectors
    Subject code 621
    Publishing date 2012-06-27
    Publishing country us
    Document type Book ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  4. Article: Genotype-phenotype correlation in two sets of monozygotic twins with Williams syndrome.

    Castorina, P / Selicorni, A / Bedeschi, F / Dalprà, L / Larizza, L

    American journal of medical genetics

    1997  Volume 69, Issue 1, Page(s) 107–111

    Abstract: We report on two sets of monozygotic (MZ) twins with Williams syndrome (WS), following the 6 pairs already reported in the literature. We have confirmed monozygosity of both pairs of twins by DNA microsatellite analysis and the clinical diagnosis by ... ...

    Abstract We report on two sets of monozygotic (MZ) twins with Williams syndrome (WS), following the 6 pairs already reported in the literature. We have confirmed monozygosity of both pairs of twins by DNA microsatellite analysis and the clinical diagnosis by fluorescence in situ hybridization using a WS-specific probe. Analysis of the concordance of different clinical signs between members of each pair of twins benefitted from a lengthy clinical follow-up, from 24 months to 7 years in one pair, and from the age of 15 years with reevaluation after 2 years in the other pair. Most clinical signs were concordant in the twins of each pair, with differences present at younger ages, mainly minor facial anomalies, being attenuated with time. Developmental delay was substantially concordant, but the degree differed slightly between twins in each pair. Inguinal hernia was present in a single twin in pair 1. Facial anomalies and other signs attributable to connective tissue abnormalities were also displayed by only one twin in both sets, suggesting that the WS genotype has only a predisposing role in the development of these signs.
    MeSH term(s) Adolescent ; Child ; Child, Preschool ; DNA, Satellite ; Female ; Follow-Up Studies ; Genotype ; Humans ; Male ; Microsatellite Repeats ; Phenotype ; Polymorphism, Genetic ; Twins, Monozygotic ; Williams Syndrome/genetics ; Williams Syndrome/physiopathology
    Chemical Substances DNA, Satellite
    Language English
    Publishing date 1997-03-03
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 133387-2
    ISSN 0148-7299
    ISSN 0148-7299
    DOI 10.1002/(sici)1096-8628(19970303)69:1<107::aid-ajmg21>3.0.co;2-s
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence).

    Baldelli, Ilaria / Baccarani, Alessio / Barone, Chiara / Bedeschi, Francesca / Bianca, Sebastiano / Calabrese, Olga / Castori, Marco / Catena, Nunzio / Corain, Massimo / Costanzo, Sara / Barbato, Giacomo De Paoli / De Stefano, Santa / Divizia, Maria Teresa / Feletti, Francesco / Formica, Matteo / Lando, Mario / Lerone, Margherita / Lorenzetti, Fulvio / Martinoli, Carlo /
    Mellini, Lorenzo / Nava, Maurizio Bruno / Porcellini, Giuseppe / Puliti, Aldamaria / Romanini, Maria Victoria / Rondoni, Franco / Santi, Pierluigi / Sartini, Silvana / Senes, Filippo / Spada, Lucia / Tarani, Luigi / Valle, Maura / Venturino, Cristina / Zaottini, Federico / Torre, Michele / Crimi, Marco

    Orphanet journal of rare diseases

    2020  Volume 15, Issue 1, Page(s) 201

    Abstract: Background: Poland syndrome (OMIM: 173800) is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, breast, shoulder, arm, and hand. The ... ...

    Abstract Background: Poland syndrome (OMIM: 173800) is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, breast, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals.
    Main body: The aim of this work is to provide recommendations for the diagnosis and management of people affected by Poland syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years affected subjects. The literature search was performed in the second half of 2019. Original papers, meta-analyses, reviews, books and guidelines were reviewed and final recommendations were reached by consensus.
    Conclusion: Being Poland syndrome a rare syndrome most recommendations here presented are good clinical practice based on the consensus of the participant experts.
    MeSH term(s) Consensus ; Health Personnel ; Humans ; Poland Syndrome/diagnosis
    Language English
    Publishing date 2020-08-05
    Publishing country England
    Document type Journal Article ; Review
    ISSN 1750-1172
    ISSN (online) 1750-1172
    DOI 10.1186/s13023-020-01481-x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Book ; Online: First prototype of a silicon tracker using an artificial retina for fast track finding

    Neri, N. / Abba, A. / Caponio, F. / Citterio, M. / Coelli, S. / Fu, J. / Geraci, A. / Monti, M. / Petruzzo, M. / Bedeschi, F. / Marino, P. / Morello, M. J. / Piucci, A. / Punzi, G. / Spinella, F. / Stracka, S. / Walsh, J. / Ristori, L. / Tonelli, D.

    2014  

    Abstract: We report on the R\&D for a first prototype of a silicon tracker based on an alternative approach for fast track finding. The working principle is inspired from neurobiology, in particular by the processing of visual images by the brain as it happens in ... ...

    Abstract We report on the R\&D for a first prototype of a silicon tracker based on an alternative approach for fast track finding. The working principle is inspired from neurobiology, in particular by the processing of visual images by the brain as it happens in nature. It is based on extensive parallelisation of data distribution and pattern recognition. In this work we present the design of a practical device that consists of a telescope based on single-sided silicon detectors; we describe the data acquisition system and the implementation of the track finding algorithms using available digital logic of commercial FPGA devices. Tracking performance and trigger capabilities of the device are discussed along with perspectives for future applications.

    Comment: 9 pages, 7 figures, Technology and Instrumentation in Particle Physics 2014 (TIPP 2014), conference proceedings
    Keywords Physics - Instrumentation and Detectors ; High Energy Physics - Experiment
    Subject code 621
    Publishing date 2014-09-11
    Publishing country us
    Document type Book ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  7. Article: Costello syndrome: a cancer predisposing syndrome?

    Moroni, I / Bedeschi, F / Luksch, R / Casanova, M / D'Incerti, L / Uziel, G / Selicorni, A

    Clinical dysmorphology

    2000  Volume 9, Issue 4, Page(s) 265–268

    Abstract: Costello Syndrome is a specific MCA/MR syndrome mainly characterized by dysmorphic facial features, peculiar biphasic growth pattern, motor and mental retardation, ectodermal anomalies involving skin and nails, and age dependent development of nasal and ... ...

    Abstract Costello Syndrome is a specific MCA/MR syndrome mainly characterized by dysmorphic facial features, peculiar biphasic growth pattern, motor and mental retardation, ectodermal anomalies involving skin and nails, and age dependent development of nasal and perianal papillomata. Heart malformations and/or hypertrophic cardiomyopathy are frequently observed. We report a 4-year-old girl with Costello syndrome who developed an intrathoracic ganglioneuroblastoma. In previous reports two patients with ectodermal tumours have been described, a ganglioneuroblastoma of the adrenal gland and an epithelioma. This third report suggests that neural crest neoplasia may be a significant risk factor for children with Costello syndrome.
    MeSH term(s) Abnormalities, Multiple ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Nervous System Neoplasms/complications ; Risk Factors ; Syndrome
    Language English
    Publishing date 2000-10
    Publishing country England
    Document type Case Reports ; Journal Article ; Review
    ZDB-ID 1121482-x
    ISSN 1473-5717 ; 0962-8827
    ISSN (online) 1473-5717
    ISSN 0962-8827
    DOI 10.1097/00019605-200009040-00006
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Measurement of the Positive Muon Anomalous Magnetic Moment to 0.20 ppm.

    Aguillard, D P / Albahri, T / Allspach, D / Anisenkov, A / Badgley, K / Baeßler, S / Bailey, I / Bailey, L / Baranov, V A / Barlas-Yucel, E / Barrett, T / Barzi, E / Bedeschi, F / Berz, M / Bhattacharya, M / Binney, H P / Bloom, P / Bono, J / Bottalico, E /
    Bowcock, T / Braun, S / Bressler, M / Cantatore, G / Carey, R M / Casey, B C K / Cauz, D / Chakraborty, R / Chapelain, A / Chappa, S / Charity, S / Chen, C / Cheng, M / Chislett, R / Chu, Z / Chupp, T E / Claessens, C / Convery, M E / Corrodi, S / Cotrozzi, L / Crnkovic, J D / Dabagov, S / Debevec, P T / Di Falco, S / Di Sciascio, G / Drendel, B / Driutti, A / Duginov, V N / Eads, M / Edmonds, A / Esquivel, J / Farooq, M / Fatemi, R / Ferrari, C / Fertl, M / Fienberg, A T / Fioretti, A / Flay, D / Foster, S B / Friedsam, H / Froemming, N S / Gabbanini, C / Gaines, I / Galati, M D / Ganguly, S / Garcia, A / George, J / Gibbons, L K / Gioiosa, A / Giovanetti, K L / Girotti, P / Gohn, W / Goodenough, L / Gorringe, T / Grange, J / Grant, S / Gray, F / Haciomeroglu, S / Halewood-Leagas, T / Hampai, D / Han, F / Hempstead, J / Hertzog, D W / Hesketh, G / Hess, E / Hibbert, A / Hodge, Z / Hong, K W / Hong, R / Hu, T / Hu, Y / Iacovacci, M / Incagli, M / Kammel, P / Kargiantoulakis, M / Karuza, M / Kaspar, J / Kawall, D / Kelton, L / Keshavarzi, A / Kessler, D S / Khaw, K S / Khechadoorian, Z / Khomutov, N V / Kiburg, B / Kiburg, M / Kim, O / Kinnaird, N / Kraegeloh, E / Krylov, V A / Kuchinskiy, N A / Labe, K R / LaBounty, J / Lancaster, M / Lee, S / Li, B / Li, D / Li, L / Logashenko, I / Lorente Campos, A / Lu, Z / Lucà, A / Lukicov, G / Lusiani, A / Lyon, A L / MacCoy, B / Madrak, R / Makino, K / Mastroianni, S / Miller, J P / Miozzi, S / Mitra, B / Morgan, J P / Morse, W M / Mott, J / Nath, A / Ng, J K / Nguyen, H / Oksuzian, Y / Omarov, Z / Osofsky, R / Park, S / Pauletta, G / Piacentino, G M / Pilato, R N / Pitts, K T / Plaster, B / Počanić, D / Pohlman, N / Polly, C C / Price, J / Quinn, B / Qureshi, M U H / Ramachandran, S / Ramberg, E / Reimann, R / Roberts, B L / Rubin, D L / Santi, L / Schlesier, C / Schreckenberger, A / Semertzidis, Y K / Shemyakin, D / Sorbara, M / Stöckinger, D / Stapleton, J / Still, D / Stoughton, C / Stratakis, D / Swanson, H E / Sweetmore, G / Sweigart, D A / Syphers, M J / Tarazona, D A / Teubner, T / Tewsley-Booth, A E / Tishchenko, V / Tran, N H / Turner, W / Valetov, E / Vasilkova, D / Venanzoni, G / Volnykh, V P / Walton, T / Weisskopf, A / Welty-Rieger, L / Winter, P / Wu, Y / Yu, B / Yucel, M / Zeng, Y / Zhang, C

    Physical review letters

    2023  Volume 131, Issue 16, Page(s) 161802

    Abstract: We present a new measurement of the positive muon magnetic anomaly, a_{μ}≡(g_{μ}-2)/2, from the Fermilab Muon g-2 Experiment using data collected in 2019 and 2020. We have analyzed more than 4 times the number of positrons from muon decay than in our ... ...

    Abstract We present a new measurement of the positive muon magnetic anomaly, a_{μ}≡(g_{μ}-2)/2, from the Fermilab Muon g-2 Experiment using data collected in 2019 and 2020. We have analyzed more than 4 times the number of positrons from muon decay than in our previous result from 2018 data. The systematic error is reduced by more than a factor of 2 due to better running conditions, a more stable beam, and improved knowledge of the magnetic field weighted by the muon distribution, ω[over ˜]_{p}^{'}, and of the anomalous precession frequency corrected for beam dynamics effects, ω_{a}. From the ratio ω_{a}/ω[over ˜]_{p}^{'}, together with precisely determined external parameters, we determine a_{μ}=116 592 057(25)×10^{-11} (0.21 ppm). Combining this result with our previous result from the 2018 data, we obtain a_{μ}(FNAL)=116 592 055(24)×10^{-11} (0.20 ppm). The new experimental world average is a_{μ}(exp)=116 592 059(22)×10^{-11} (0.19 ppm), which represents a factor of 2 improvement in precision.
    Language English
    Publishing date 2023-11-05
    Publishing country United States
    Document type Journal Article
    ZDB-ID 208853-8
    ISSN 1079-7114 ; 0031-9007
    ISSN (online) 1079-7114
    ISSN 0031-9007
    DOI 10.1103/PhysRevLett.131.161802
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  9. Article ; Online: Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.

    Dai, J / Kim, O-H / Cho, T-J / Schmidt-Rimpler, M / Tonoki, H / Takikawa, K / Haga, N / Miyoshi, K / Kitoh, H / Yoo, W-J / Choi, I-H / Song, H-R / Jin, D-K / Kim, H-T / Kamasaki, H / Bianchi, P / Grigelioniene, G / Nampoothiri, S / Minagawa, M /
    Miyagawa, S-i / Fukao, T / Marcelis, C / Jansweijer, M C E / Hennekam, R C M / Bedeschi, F / Mustonen, A / Jiang, Q / Ohashi, H / Furuichi, T / Unger, S / Zabel, B / Lausch, E / Superti-Furga, A / Nishimura, G / Ikegawa, S

    Journal of medical genetics

    2010  Volume 47, Issue 10, Page(s) 704–709

    Abstract: Background: Mutations in TRPV4, a gene that encodes a Ca(2+) permeable non-selective cation channel, have recently been found in a spectrum of skeletal dysplasias that includes brachyolmia, spondylometaphyseal dysplasia, Kozlowski type (SMDK) and ... ...

    Abstract Background: Mutations in TRPV4, a gene that encodes a Ca(2+) permeable non-selective cation channel, have recently been found in a spectrum of skeletal dysplasias that includes brachyolmia, spondylometaphyseal dysplasia, Kozlowski type (SMDK) and metatropic dysplasia (MD). Only a total of seven missense mutations were detected, however. The full spectrum of TRPV4 mutations and their phenotypes remained unclear.
    Objectives and methods: To examine TRPV4 mutation spectrum and phenotype-genotype association, we searched for TRPV4 mutations by PCR-direct sequencing from genomic DNA in 22 MD and 20 SMDK probands.
    Results: TRPV4 mutations were found in all but one MD subject. In total, 19 different heterozygous mutations were identified in 41 subjects; two were recurrent and 17 were novel. In MD, a recurrent P799L mutation was identified in nine subjects, as well as 10 novel mutations including F471del, the first deletion mutation of TRPV4. In SMDK, a recurrent R594H mutation was identified in 12 subjects and seven novel mutations. An association between the position of mutations and the disease phenotype was also observed. Thus, P799 in exon 15 is a hot codon for MD mutations, as four different amino acid substitutions have been observed at this codon; while R594 in exon 11 is a hotspot for SMDK mutations.
    Conclusion: The TRPV4 mutation spectrum in MD and SMDK, which showed genotype-phenotype correlation and potential functional significance of mutations that are non-randomly distributed over the gene, was presented in this study. The results would help diagnostic laboratories establish efficient screening strategies for genetic diagnosis of the TRPV4 dysplasia family diseases.
    MeSH term(s) DNA Mutational Analysis ; Dwarfism/diagnostic imaging ; Dwarfism/genetics ; Dwarfism/pathology ; Genotype ; Humans ; Mutation ; Mutation, Missense ; Osteochondrodysplasias/diagnostic imaging ; Osteochondrodysplasias/genetics ; Osteochondrodysplasias/pathology ; Phenotype ; Polymerase Chain Reaction ; Radiography ; Sequence Analysis, DNA ; TRPV Cation Channels/genetics
    Chemical Substances TRPV Cation Channels ; TRPV4 protein, human
    Language English
    Publishing date 2010-10
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 220881-7
    ISSN 1468-6244 ; 0022-2593
    ISSN (online) 1468-6244
    ISSN 0022-2593
    DOI 10.1136/jmg.2009.075358
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.

    Nishimura, Gen / Dai, Jin / Lausch, Ekkehart / Unger, Sheila / Megarbané, André / Kitoh, Hiroshi / Kim, Ok Hwa / Cho, Tae-Joon / Bedeschi, Francesca / Benedicenti, Francesco / Mendoza-Londono, Roberto / Silengo, Margherita / Schmidt-Rimpler, Maren / Spranger, Jurgen / Zabel, Bernhard / Ikegawa, Shiro / Superti-Furga, Andrea

    American journal of medical genetics. Part A

    2010  Volume 152A, Issue 6, Page(s) 1443–1449

    Abstract: Recent discoveries have established the existence of a family of skeletal dysplasias caused by dominant mutations in TRPV4. This family comprises, in order of increasing severity, dominant brachyolmia, spondylo-metaphyseal dysplasia Kozlowski type, and ... ...

    Abstract Recent discoveries have established the existence of a family of skeletal dysplasias caused by dominant mutations in TRPV4. This family comprises, in order of increasing severity, dominant brachyolmia, spondylo-metaphyseal dysplasia Kozlowski type, and metatropic dysplasia. We tested the hypothesis that a further condition, Spondylo-epiphyseal dysplasia (SED), Maroteaux type (MIM 184095; also known as pseudo-Morquio syndrome type 2), could be caused by TRPV4 mutations. We analyzed six individuals with Maroteaux type SED, including three who had previously been reported. All six patients were found to have heterozygous TRPV4 mutations; three patients had unreported mutations, while three patients had mutations previously described in association with metatropic dysplasia. In addition, we tested one individual with a distinct rare disorder, parastremmatic dysplasia (MIM 168400). This patient had a common, recurrent mutation seen in several patients with Kozlowski type spondylo-metaphyseal dysplasia. We conclude that SED Maroteaux type and parastremmatic dysplasia are part of the TRPV4 dysplasia family and that TRPV4 mutations show considerable variability in phenotypic expression resulting in distinct clinical-radiographic phenotypes.
    MeSH term(s) Adult ; Child ; Female ; Genetic Variation ; Humans ; Male ; Mucopolysaccharidosis II/diagnostic imaging ; Mucopolysaccharidosis II/genetics ; Mutation ; Osteochondrodysplasias/diagnostic imaging ; Osteochondrodysplasias/genetics ; Pedigree ; Radiography ; TRPV Cation Channels/genetics
    Chemical Substances TRPV Cation Channels ; TRPV4 protein, human
    Language English
    Publishing date 2010-05-26
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1493479-6
    ISSN 1552-4833 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.33414
    Database MEDical Literature Analysis and Retrieval System OnLINE

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