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
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
TP63-truncating variants cause isolated premature ovarian insufficiency.
Tucker EJ et al.
Human Mutation, 2019
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