Article ; Online: Lissencephaly With Cerebellar Hypoplasia Due To a New RELN Mutation.
2023 Volume 149, Page(s) 137–140
Abstract: Lissencephaly with cerebellar hypoplasia (LCH) is a rare variant form of lissencephaly, its distinctive neuroradiological phenotype being an important investigation clue regarding the potential involved genes, including variants in RELN gene. We report ... ...
Abstract | Lissencephaly with cerebellar hypoplasia (LCH) is a rare variant form of lissencephaly, its distinctive neuroradiological phenotype being an important investigation clue regarding the potential involved genes, including variants in RELN gene. We report on a case of LCH whose clinical and neuroradiological features led to the identification of a homozygous pathogenic variant in RELN gene that has not been previously reported in the scientific literature. |
---|---|
MeSH term(s) | Humans ; Nervous System Malformations/diagnostic imaging ; Nervous System Malformations/genetics ; Lissencephaly/diagnostic imaging ; Lissencephaly/genetics ; Homozygote ; Mutation/genetics |
Language | English |
Publishing date | 2023-09-25 |
Publishing country | United States |
Document type | Case Reports ; Journal Article |
ZDB-ID | 639164-3 |
ISSN | 1873-5150 ; 0887-8994 |
ISSN (online) | 1873-5150 |
ISSN | 0887-8994 |
DOI | 10.1016/j.pediatrneurol.2023.09.012 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
More links
Kategorien
In stock of ZB MED Cologne/Königswinter
Zs.A 2260: Show issues | Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG) |
Order via subito
This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.