ASXL3 gene variants causing Bainbridge-Ropers syndrome: clinical and genetic analysis of four Chinese patients

Bainbridge-Ropers syndrome (BRPS, OMIM #615485) is a rare, heterogeneous autosomal dominant genetic disease that is mainly characterized by intellectual disability (ID) of varying degrees, developmental delay (DD), language impairments, failure to thrive, behavioral issues, hypotonia, feeding diffic...

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Detalhes bibliográficos

Principais autores:	Qi Yang, Qiang Zhang, Xunzhao Zhou, Shang Yi, Zailong Qin, Sheng Yi, Sheng He, Jingsi Luo
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2026-01-01
Colecção:	Frontiers in Neuroscience
Assuntos:	ASXL3 Bainbridge–Ropers syndrome developmental delay intellectual disabilities whole exome sequencing
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fnins.2025.1739877/full
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