Molecular characterization of a rare TP63 variant associated with split-hand/split-foot malformation 4 and incomplete penetrance: disruption of the p63-Dlx signaling pathway

Abstract Background Split-hand/foot malformation (SHFM) is a congenital disability characterized by the absence or hypoplasia of the central ray of the hands and/or feet. This study reports a causative variant in the TP63 gene in a Chinese family exhibiting limb anomalies associated with SHFM4. Meth...

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Detalhes bibliográficos

Principais autores:	Jianlong Zhuang, Yanqing Li, Yu’e Chen, Hegan Zhang, Shufen Liu, Manman Hu, Chunnuan Chen
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2025-02-01
coleção:	BMC Genomics
Assuntos:	Split-hand/foot malformation Whole exome sequencing RNA sequencing TP63 Pathogenesis
Acesso em linha:	https://doi.org/10.1186/s12864-025-11297-3
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