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
Molecular characterization of a rare TP63 variant associated with split-hand/split-foot malformation 4 and incomplete penetrance: disruption of the p63-Dlx signaling pathway.
Zhuang J et al.
Bmc Genomics, 2025
Ectrodactyly-ectodermal dysplasia-clefting syndrome. Prenatal prospective ultrasound diagnosis.
Orlandi G et al.
Journal of Clinical Ultrasound : Jcu, 2023
A novel de novo TP63 mutation in whole-exome sequencing of a Syrian family with Oral cleft and ectrodactyly.
Simpson CL et al.
Molecular Genetics & Genomic Medicine, 2023
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
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
Mutation patterns in recurrent and/or metastatic oropharyngeal squamous cell carcinomas in relation to human papillomavirus status.
Reder H et al.
Cancer 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
Deletions and loss-of-function variants in TP63 associated with orofacial clefting.
Khandelwal KD et al.
European Journal of Human Genetics : Ejhg, 2019
TP63-truncating variants cause isolated premature ovarian insufficiency.
Tucker EJ et al.
Human Mutation, 2019
Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype-phenotype correlation analyses of TP63-related disorders.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Sweating ability of patients with p63-associated syndromes.
Ferstl P et al.
European Journal of Pediatrics, 2018
Genetic analysis of a congenital split‑hand/split‑foot malformation 4 pedigree.
Yang X et al.
Molecular Medicine Reports, 2018
Prenatal diagnosis of Ectrodactyly-Ectodermal dysplasia-Cleft (EEC) syndrome in a Chinese woman with a TP63 mutation.
Yang Y et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2017
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