Associated Papers
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
Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia.
Liu Y et al.
Bmc Oral Health, 2024
38280992 (PubMed )
Supplement: 12903_2024_3888_MOESM3_ESM.pdf
Disease-related p63 DBD mutations impair DNA binding by distinct mechanisms and varying degree.
Osterburg C et al.
Cell Death & Disease, 2023
37072394 (PubMed )
Supplement: 41419_2023_5796_MOESM10_ESM.xlsx › Reference_p63_mutations
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 Missense Variant of TP63 Heterozygously Present in Split-Hand/Foot Malformation.
Geng H et al.
Biomed Research International, 2020
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
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