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
Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3.
Hizem S et al.
Ophthalmic Genetics, 2024
Undiagnosed disease program in South Africa: Results from first 100 exomes.
Moosa S et al.
American Journal of Medical Genetics. Part A, 2022
TP63-truncating variants cause isolated premature ovarian insufficiency.
Tucker EJ et al.
Human Mutation, 2019
First- and second-shell metal binding residues in human proteins are disproportionately associated with disease-related SNPs.
Levy R et al.
Human Mutation, 2011
21898656 (PubMed )
Supplement: supplement_1.pdf
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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