AEC Syndrome Latest Advances

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome in monozygotic twins with a novel tumor protein p63 gene pathogenic variant.

Journal: JAAD case reports

Published: October 27, 2025

Therapeutic p63 Isoform Switching Rescues Epidermal Defects in AEC Syndrome.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: August 13, 2025

Deletion of p63 exon 13 in mice reveals C-terminal isoform-specific functions in epithelial development.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: July 17, 2025

Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome-Linked p63 Mutations Disrupt Keratinocyte Proliferation and Survival Through Oxidative Stress and Impaired Slc7a11 Expression.

Journal: International journal of molecular sciences

Published: April 14, 2025

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.

Journal: Genes

Published: May 02, 2023

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.

Journal: Anaesthesia reports

Published: December 22, 2022

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.

Journal: Italian journal of pediatrics

Published: August 13, 2021

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.

Journal: Balkan journal of medical genetics : BJMG

Published: September 21, 2020