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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Main Authors: | Jianlong Zhuang, Yanqing Li, Yu’e Chen, Hegan Zhang, Shufen Liu, Manman Hu, Chunnuan Chen |
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Format: | Article |
Language: | English |
Published: |
BMC
2025-02-01
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Series: | BMC Genomics |
Subjects: | |
Online Access: | https://doi.org/10.1186/s12864-025-11297-3 |
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