Customize your search results with filters

Term Search
You can select from the dropdown list OR enter your own terms to refine the search.

Last Updated: 03/06/2025

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 86 publications

Anthracyclines disaggregate and restore mutant p63 function: a potential therapeutic approach for AEC syndrome.

Anthracyclines disaggregate and restore mutant p63 function: a potential therapeutic approach for AEC syndrome.

Journal: Cell death discovery
Published: October 22, 2024

Molecular Modeling Analysis Provides Genotype-Phenotype Correlation Insights in a Patient with Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome.

Molecular Modeling Analysis Provides Genotype-Phenotype Correlation Insights in a Patient with Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome.

Journal: Genes
Published: May 02, 2023

A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.

A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.

Journal: European journal of medical genetics
Published: January 31, 2023

Peri-operative management of a patient with an ectodermal dysplasia (Rapp-Hodgkin) syndrome.

Peri-operative management of a patient with an ectodermal dysplasia (Rapp-Hodgkin) syndrome.

Journal: Anaesthesia reports
Published: December 22, 2022

Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant.

Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant.

Journal: European journal of medical genetics
Published: June 03, 2022

Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up.

Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up.

Journal: Italian journal of pediatrics
Published: August 13, 2021

Isoform-Specific Roles of Mutant p63 in Human Diseases.

Isoform-Specific Roles of Mutant p63 in Human Diseases.

Journal: Cancers
Published: December 30, 2020

Ankyloblepharon-ectodermal Defects-cleft Lip-palate Syndrome Due to a Novel Missense Mutation in the SAM Domain of the TP63 Gene.

Ankyloblepharon-ectodermal Defects-cleft Lip-palate Syndrome Due to a Novel Missense Mutation in the SAM Domain of the TP63 Gene.

Journal: Balkan journal of medical genetics : BJMG
Published: September 21, 2020

A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia.

A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia.

Journal: The journal of gene medicine
Published: February 28, 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.

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.

Journal: Molecular genetics & genomic medicine
Published: January 14, 2019

Ankyloblepharon-ectodermal dysplasia-clefting syndrome misdiagnosed as epidermolysis bullosa and congenital ichthyosiform erythroderma: Case report and review of published work.

Ankyloblepharon-ectodermal dysplasia-clefting syndrome misdiagnosed as epidermolysis bullosa and congenital ichthyosiform erythroderma: Case report and review of published work.

Journal: The Journal of dermatology
Published: September 18, 2018

Sweating ability of patients with p63-associated syndromes.

Sweating ability of patients with p63-associated syndromes.

Journal: European journal of pediatrics
Published: June 12, 2018
Showing 1-12 of 86

Last Updated: 03/06/2025