Associated Papers
Spectrum of renal involvement among children with ectodermal dysplasia: a case report and narrative review.
Jain S et al.
Clinical and Experimental Dermatology, 2025
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
Disease-related p63 DBD mutations impair DNA binding by distinct mechanisms and varying degree.
Osterburg C et al.
Cell Death & Disease, 2023
Case report: ADULT syndrome: a rare case of congenital lacrimal duct abnormality.
Zhou J et al.
Frontiers in Genetics, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Prenatal diagnosis of ectrodactyly-ectodermal dysplasia clefting syndrome ‒ a case report with literature review.
Savukyne E et al.
Case Reports in Perinatal Medicine, 2022
TP63-related disorders: two case reports and a brief review of the literature.
Nanda A et al.
Dermatology Online Journal, 2021
Spontaneous resolution of nonimmune hydrops fetalis in a fetus with TP63 gene mutation and LZTR1 gene variants.
Hurni Y et al.
Clinical Case Reports, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
TP63-mutation as a cause of prenatal lethal multicystic dysplastic kidneys.
Friedmann I et al.
Molecular Genetics & Genomic Medicine, 2020
Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis.
Childs AJ et al.
American Journal of Medical Genetics. Part A, 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
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
Conformational plasticity and evolutionary analysis of the myotilin tandem Ig domains.
Puž V et al.
Scientific Reports, 2017
ADULT Phenotype and rs16864880 in the TP63 Gene: Two New Cases and Review of the Literature.
Kawasaki de Araujo T et al.
Molecular Syndromology, 2017
Tooth agenesis and orofacial clefting: genetic brothers in arms?
Phan M et al.
Human Genetics, 2016
Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63.
Otsuki Y et al.
Plastic and Reconstructive Surgery. Global Open, 2016
Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation.
Enriquez A et al.
American Journal of Medical Genetics. Part A, 2016
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
Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination.
Sharma D et al.
Frontiers in Pediatrics, 2015
EEC- and ADULT-associated TP63 mutations exhibit functional heterogeneity toward P63 responsive sequences.
Monti P et al.
Human Mutation, 2013
ADULT syndrome due to an R243W mutation in TP63.
Berk DR et al.
International Journal of Dermatology, 2012
Disease-associated mutations disrupt functionally important regions of intrinsic protein disorder.
Vacic V et al.
Plos Computational Biology, 2012
First- and second-shell metal binding residues in human proteins are disproportionately associated with disease-related SNPs.
Levy R et al.
Human Mutation, 2011
Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.
Prontera P et al.
American Journal of Medical Genetics. Part A, 2011
Split hand foot malformation with whorl-like pigmentary pattern: phenotypic expression of somatic mosaicism for the p63 mutation.
Kosaki R et al.
American Journal of Medical Genetics. Part A, 2008
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
ADULT syndrome caused by a mutation previously associated with EEC syndrome.
Avitan-Hersh E et al.
Pediatric Dermatology, 0