Whole exome sequencing identified a homozygous novel variant in DOP1A gene in the Pakistan family with neurodevelopmental disabilities: case report and literature review

BackgroundHereditary neurodevelopmental disorders (NDDs) are prevalent in poorly prognostic pediatric diseases, but the pathogenesis of NDDs is still unclear. Irregular myelination could be one of the possible causes of NDDs.Case presentationHere, whole exome sequencing was carried out for a consang...

ver descrição completa

Detalhes bibliográficos

Principais autores:	Wei Zhang, Muhammad Tariq, Bhaskar Roy, Juan Shen, Ayaz Khan, Naveed Altaf Malik, Sijie He, Shahid Mahmood Baig, Xiaodong Fang, Jianguo Zhang
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2024-05-01
coleção:	Frontiers in Genetics
Assuntos:	neurodevelopmental disorders (NDDs) myelination DOP1A Mon2 proteolipid protein (PLP) myelin-associate glycoprotein (MAG)
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fgene.2024.1351710/full
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!