Novel MEF2C point mutations in Chinese patients with Rett (−like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation

BACKGROUND: MEF2C (Myocyte-specific enhancer factor 2C) has been associated with neurodevelopmental disorders. This study aimed at delineating the clinical profiles of MEF2C gene mutations. METHODS: In total, 112 Chinese patients with intellectual disability (ID) were recruited, including 44 patient...

Descripción completa

Detalles Bibliográficos
Autores principales: Wang, Jiaping, Zhang, Qingping, Chen, Yan, Yu, Shujie, Wu, Xiru, Bao, Xinhua, Wen, Yongxin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6208086/
https://www.ncbi.nlm.nih.gov/pubmed/30376817
http://dx.doi.org/10.1186/s12881-018-0699-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6208086/
https://www.ncbi.nlm.nih.gov/pubmed/30376817
http://dx.doi.org/10.1186/s12881-018-0699-1

Ejemplares similares