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, rel...

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Detalles Bibliográficos
Autores principales: Pan, Yuhua, Guo, Xiaoling, Zhou, Xiaoqiang, Liu, Yue, Lian, Jingli, Yang, Tingting, Huang, Xiang, He, Fei, Zhang, Jian, Wu, Buling, Xiong, Fu, Yang, Xingkun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8636088/
https://www.ncbi.nlm.nih.gov/pubmed/34869127
http://dx.doi.org/10.3389/fped.2021.775488

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8636088/
https://www.ncbi.nlm.nih.gov/pubmed/34869127
http://dx.doi.org/10.3389/fped.2021.775488

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