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

• Autori principali: Yuhua Pan (Autore), Xiaoling Guo (Autore), Xiaoqiang Zhou (Autore), Yue Liu (Autore), Jingli Lian (Autore), Tingting Yang (Autore), Xiang Huang (Autore), Fei He (Autore), Jian Zhang (Autore), Buling Wu (Autore), Fu Xiong (Autore), Xingkun Yang (Autore)
• Natura: Libro
• Pubblicazione: Frontiers Media S.A., 2021-11-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

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...