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

• Главные авторы: Yuhua Pan (Автор), Xiaoling Guo (Автор), Xiaoqiang Zhou (Автор), Yue Liu (Автор), Jingli Lian (Автор), Tingting Yang (Автор), Xiang Huang (Автор), Fei He (Автор), Jian Zhang (Автор), Buling Wu (Автор), Fu Xiong (Автор), Xingkun Yang (Автор)
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• Опубликовано: Frontiers Media S.A., 2021-11-01T00:00:00Z.
• Предметы: article
• Online-ссылка: 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...