Phenotype and genotype analyses of Chinese patients with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations

Background: Autosomal dominant mental retardation type 5 (MRD5), a rare neurodevelopmental disorder (NDD) characterized by intellectual disability (ID), developmental delay (DD), and epilepsy predominantly, is caused by a heterozygous mutation in the SYNGAP1 gene. SYNGAP1 mutations have been rarely...

Descripción completa

Detalles Bibliográficos
Autores principales: Wang, Yanxin, Lv, Yuqiang, Li, Zilong, Gao, Min, Yang, Xiaomeng, Li, Yue, Shi, Jianguo, Gao, Zaifen, Liu, Yi, Gai, Zhongtao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9792850/
https://www.ncbi.nlm.nih.gov/pubmed/36583017
http://dx.doi.org/10.3389/fgene.2022.957915

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9792850/
https://www.ncbi.nlm.nih.gov/pubmed/36583017
http://dx.doi.org/10.3389/fgene.2022.957915

Ejemplares similares