Prenatal and postnatal diagnosis of Phelan–McDermid syndrome: A report of 21 cases from a medical center and review of the literature

Background: Phelan–McDermid syndrome (PMS), caused by deletions at 22q13.3 and pathogenic variants in the SHANK3 gene, is a rare developmental disorder characterized by hypotonia, developmental delay (DD), intellectual disability (ID), autism spectrum disorder (ASD), dysmorphic features, absence of...

Descripción completa

Detalles Bibliográficos
Autores principales: Hao, Ying, Liu, Yang, Yang, Jingxin, Li, Xingping, Luo, Fuwei, Geng, Qian, Li, Suli, Li, Peining, Wu, Weiqing, Xie, Jiansheng
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/PMC9470928/
https://www.ncbi.nlm.nih.gov/pubmed/36118903
http://dx.doi.org/10.3389/fgene.2022.961196

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9470928/
https://www.ncbi.nlm.nih.gov/pubmed/36118903
http://dx.doi.org/10.3389/fgene.2022.961196

Ejemplares similares