Heterozygous TP63 mutations cause a spectrum of disorders including split‐hand/foot malformation 4 (SHFM4) and ectrodactyly‐ectodermal dysplasia‐cleft lip/palate syndrome 3 (EEC3). While some SHFM4 mutations concurrently induce EEC3‐like phenotypes (designated SHFM4/EEC3… Click to show full abstract
Heterozygous TP63 mutations cause a spectrum of disorders including split‐hand/foot malformation 4 (SHFM4) and ectrodactyly‐ectodermal dysplasia‐cleft lip/palate syndrome 3 (EEC3). While some SHFM4 mutations concurrently induce EEC3‐like phenotypes (designated SHFM4/EEC3 mutations), their prevalence and distribution—particularly those near the p63 C‐terminus—remain poorly characterized.
Keywords:
split hand;
tp63;
foot malformation;
hand foot
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2025
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2025
Link to full text (if available)
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recommendations!