Case Report: A Novel Compound Heterozygous Mutation of the FRMD4A Gene Identified in a Chinese Family With Global Developmental Delay, Intellectual Disability, and Ataxia

Case Report: A Novel Compound Heterozygous Mutation of the FRMD4A Gene Identified in a Chinese Family With Global Developmental Delay, Intellectual Disability, and Ataxia

Background: FERM domain-containing protein 4A (FRMD4A) is a scaffolding protein previously proposed to be critical in the regulation of cell polarity in neurons and implicated in human intellectual development.Case Presentation: We report a case of a 3-year-old boy with corpus callosum anomaly, rela...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Yuhua Pan, Xiaoling Guo, Xiaoqiang Zhou, Yue Liu, Jingli Lian, Tingting Yang, Xiang Huang, Fei He, Jian Zhang, Buling Wu, Fu Xiong, Xingkun Yang
Formato: article
Lenguaje:EN
Publicado: Frontiers Media S.A. 2021
Materias:
global developmental delay (GDD)
compound heterozygous missense mutations
corpus callosum anomaly
FRMD4A
intellectual disability
Pediatrics
RJ1-570
Acceso en línea:https://doaj.org/article/39ec616e47284a779f0000077845db2c
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Internet

https://doaj.org/article/39ec616e47284a779f0000077845db2c

Ejemplares similares