Associated Papers
Split Hand-Foot Malformations-Unveiling Unique Molecular Diagnosis From a Brazilian Cohort.
Cás ED et al.
Clinical Genetics, 2025
Comprehensive Characterization of the Coding and Non-Coding Single Nucleotide Polymorphisms in the Tumor Protein p63 (TP63) Gene Using In Silico Tools.
Akter S et al.
Biomolecules, 2021
34827731 (PubMed )
Supplement: biomolecules-11-01733-s001.zip › biomolecules-1441232-supplementary.pdf
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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