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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Hlavní autoři:	Qi Yang, Qiang Zhang, Xunzhao Zhou, Shang Yi, Zailong Qin, Sheng Yi, Sheng He, Jingsi Luo
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2026-01-01
Edice:	Frontiers in Neuroscience
Témata:	ASXL3 Bainbridge–Ropers syndrome developmental delay intellectual disabilities whole exome sequencing
On-line přístup:	https://www.frontiersin.org/articles/10.3389/fnins.2025.1739877/full
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