Associated Papers
A Novel TP63 Missense Mutation in the Sumoylation Motif Causes Isolated Split-Hand/Foot Malformation 4: A Pedigree Report and Literature Review.
Yang W et al.
Molecular Genetics & Genomic Medicine, 2025
40964825 (PubMed )
Supplement: MGG3-13-e70140-s001.docx
Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family.
Peng Y et al.
Molecular Genetics & Genomic Medicine, 2021
A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia.
Jin JY et al.
The Journal of Gene Medicine, 2019
P63 gene mutations and human developmental syndromes.
Brunner HG et al.
American Journal of Medical Genetics, 2002
The p63 gene in EEC and other syndromes.
Brunner HG et al.
Journal of Medical Genetics, 2002
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
van Bokhoven H et al.
American Journal of Human Genetics, 2001
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