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...
Main Authors: | Yanxin Wang, Yuqiang Lv, Zilong Li, Min Gao, Xiaomeng Yang, Yue Li, Jianguo Shi, Zaifen Gao, Yi Liu, Zhongtao Gai |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2022-12-01
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Series: | Frontiers in Genetics |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.957915/full |
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