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
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.
Soğukpınar M et al.
European Journal of Medical Genetics, 2024
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
Disease-related p63 DBD mutations impair DNA binding by distinct mechanisms and varying degree.
Osterburg C et al.
Cell Death & Disease, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
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
Molecular diagnosis for 55 fetuses with skeletal dysplasias by whole-exome sequencing: A retrospective cohort study.
Zhang L et al.
Clinical Genetics, 2021
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 Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report.
Otsuki Y et al.
Medicine, 2020
Sequence Variants in the WNT10B and TP63 Genes Underlying Isolated Split-Hand/Split-Foot Malformation.
Bilal M et al.
Genetic Testing and Molecular Biomarkers, 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
TP63-truncating variants cause isolated premature ovarian insufficiency.
Tucker EJ et al.
Human Mutation, 2019
Ectrodactyly-ectodermal dysplasia-clefting syndrome with unusual cutaneous vitiligoid and psoriasiform lesions due to a novel single point TP63 gene mutation.
Wawrzycki B et al.
Postepy Dermatologii I Alergologii, 2019
Copy-number variants and candidate gene mutations in isolated split hand/foot malformation.
Carter TC et al.
Journal of Human Genetics, 2017
TP63 mutation in a patient with acro-dermo-ungual-lacrimal-tooth syndrome: Additional evidence of molecular overlap of the ADULT and EEC syndromes.
Chacon-Camacho OF et al.
American Journal of Medical Genetics. Part A, 2016
A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome.
Alves LU et al.
Genetics and Molecular Biology, 2015
A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012.
Cui Y et al.
Orphanet Journal of Rare Diseases, 2012
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
Meta-analysis and systematic review for the genetic basis of cleft lip and palate.
Alghonemy WY et al.
Journal of Oral Biology and Craniofacial Research, 0