A Novel de novo Mutation in EBF3 Associated With Hypotonia, Ataxia, and Delayed Development Syndrome in a Chinese Boy

OBJECTIVE: Global developmental delay has markedly high phenotypic and genetic heterogeneity, and is a great challenge for clinical diagnosis. Hypotonia, ataxia, and delayed development syndrome (HADDS), first reported in 2017, is one type of global development delay. The aim of the present study wa...

Descripción completa

Detalles Bibliográficos
Autores principales: Huang, Yanru, Mei, Libin, Wang, Yangdan, Ye, Huiming, Ma, Xiaomin, Zhang, Jian, Cai, Meijiao, Li, Ping, Ge, Yunsheng, Zhou, Yulin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8339956/
https://www.ncbi.nlm.nih.gov/pubmed/34367240
http://dx.doi.org/10.3389/fgene.2021.676832

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8339956/
https://www.ncbi.nlm.nih.gov/pubmed/34367240
http://dx.doi.org/10.3389/fgene.2021.676832

Ejemplares similares