Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly: A Case Report

OBJECTIVE: We describe a third patient with brain small vessel disease 3 (BSVD3), being the first with a homozygous essential splice site variant in the COLGALT1 gene, with a more severe phenotype than the 2 children reported earlier. METHODS: Analysis of whole exome sequencing (WES) data of the chi...

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Detalles Bibliográficos
Autores principales: Teunissen, Mariel W.A., Kamsteeg, Erik-Jan, Sallevelt, Suzanne C.E.H., Pennings, Maartje, Bauer, Noel J.C., Vermeulen, R. Jeroen, Nicolai, Joost
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7943220/
https://www.ncbi.nlm.nih.gov/pubmed/33709034
http://dx.doi.org/10.1212/NXG.0000000000000564

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7943220/
https://www.ncbi.nlm.nih.gov/pubmed/33709034
http://dx.doi.org/10.1212/NXG.0000000000000564

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