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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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Principais autores: Jianlong Zhuang, Yanqing Li, Yu’e Chen, Hegan Zhang, Shufen Liu, Manman Hu, Chunnuan Chen
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2025-02-01
Serier:BMC Genomics
Fag:
Split-hand/foot malformation
Whole exome sequencing
RNA sequencing
TP63
Pathogenesis
Online adgang:https://doi.org/10.1186/s12864-025-11297-3
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