Associated Papers
De Novo Missense Variant in TP63 Gene: Insights on Clinical and Molecular Investigations.
Chen J et al.
The Journal of Gene Medicine, 2025
A Rare Case of TP63-Associated Lymphopenia Revealed by Newborn Screening Using TREC.
Marakhonov A et al.
International Journal of Molecular Sciences, 2024
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
Case report: Artificial thymic organoids facilitate clinical decisions for a patient with a TP63 variant and severe persistent T cell lymphopenia.
Gall A et al.
Frontiers in Immunology, 2024
Case report: Prenatal diagnosis of Ectrodactyly-Ectodermal dysplasia-Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney.
Biwei H et al.
Frontiers in Genetics, 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
An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.
Vora NL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida.
Thanikachalam S et al.
Genes, 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
Sweating ability of patients with p63-associated syndromes.
Ferstl P et al.
European Journal of Pediatrics, 2018
Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins.
Wenger T et al.
American Journal of Medical Genetics. Part A, 2018
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 recurrent TP63 mutation causing EEC3 and Rapp-Hodgkin syndromes.
Brueggemann FB et al.
Clinical Dysmorphology, 2016
P63 mutations are not a major cause of non-syndromic split hand/foot malformation.
de Mollerat XJ et al.
Journal of Medical Genetics, 2003
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