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  1. Artikel: Case Report: Precision genetic diagnosis in a case of Dyggve-Melchior-Clausen syndrome reveals paternal isodisomy and heterodisomy of chromosome 18 with imprinting clinical implications.

    López-Garrido, María-Pilar / Carrascosa-Romero, María-Carmen / Montero-Hernández, Minerva / Serrano-Martínez, Caridad-María / Sánchez-Sánchez, Francisco

    Frontiers in genetics

    2022  Band 13, Seite(n) 1005573

    Abstract: A twelve-year-old patient with a previous clinical diagnosis of spondylocostal skeletal dysplasia and moderate intellectual disability was genetically analyzed through next generation sequencing of a targeted gene panel of 179 genes associated to ... ...

    Abstract A twelve-year-old patient with a previous clinical diagnosis of spondylocostal skeletal dysplasia and moderate intellectual disability was genetically analyzed through next generation sequencing of a targeted gene panel of 179 genes associated to skeletal dysplasia and mucopolysaccharidosis in order to stablish a precision diagnosis. A homozygous nonsense [c.62C>G; p.(Ser21Ter)] mutation in
    Sprache Englisch
    Erscheinungsdatum 2022-11-18
    Erscheinungsland Switzerland
    Dokumenttyp Case Reports
    ZDB-ID 2606823-0
    ISSN 1664-8021
    ISSN 1664-8021
    DOI 10.3389/fgene.2022.1005573
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel ; Online: Brief Report: Evidence of Autism Spectrum Disorder Caused by a Mutation in ATRX Gene: A Case Report.

    López-Garrido, María-Pilar / Carrascosa-Romero, María-Carmen / Montero-Hernández, Minerva / Ruiz-Almansa, Jesús / Sánchez-Sánchez, Francisco

    Journal of autism and developmental disorders

    2022  Band 54, Heft 1, Seite(n) 379–388

    Abstract: ATRX mutations are commonly associated with alpha-thalassaemia mental retardation syndrome (ATR-X syndrome) with a notable variable expressivity. This X-linked disorder is characterized by intellectual disability (ID) in a higher or lesser degree, in ... ...

    Abstract ATRX mutations are commonly associated with alpha-thalassaemia mental retardation syndrome (ATR-X syndrome) with a notable variable expressivity. This X-linked disorder is characterized by intellectual disability (ID) in a higher or lesser degree, in which the alpha-thalassaemia feature is not always present. Other phenotypic manifestations like facial dimorphism, hypotonia, microcephaly, skeletal abnormalities or urogenital malformations have been frequently observed in ATR-X syndrome. Herein, we report a missense ATRX mutation (Thr1621Met) in a patient with an autism spectrum disorder (ASD) diagnosis. Except for ID, no typical signs of ATR-X syndrome were found in the patient. These results confirm the extensive phenotypic variability associated to ATRX mutations and show the involvement of this gene in the ASD.
    Mesh-Begriff(e) Humans ; alpha-Thalassemia/diagnosis ; alpha-Thalassemia/genetics ; alpha-Thalassemia/complications ; DNA Helicases/genetics ; X-linked Nuclear Protein/genetics ; Autism Spectrum Disorder/diagnosis ; Autism Spectrum Disorder/genetics ; Autism Spectrum Disorder/complications ; Mental Retardation, X-Linked/diagnosis ; Mental Retardation, X-Linked/genetics ; Mental Retardation, X-Linked/complications ; Intellectual Disability/genetics ; Intellectual Disability/complications ; Mutation
    Chemische Substanzen DNA Helicases (EC 3.6.4.-) ; X-linked Nuclear Protein (EC 3.6.4.12) ; ATRX protein, human (EC 3.6.4.12)
    Sprache Englisch
    Erscheinungsdatum 2022-05-20
    Erscheinungsland United States
    Dokumenttyp Case Reports ; Journal Article
    ZDB-ID 391999-7
    ISSN 1573-3432 ; 0162-3257
    ISSN (online) 1573-3432
    ISSN 0162-3257
    DOI 10.1007/s10803-022-05588-x
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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