AEC Syndrome Latest Advances

Prosthetic Rehabilitation in an Adolescent With Hay-Wells Syndrome (AEC Syndrome): A Clinical Report.

Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

Published: July 06, 2026

Ectodermal Dysplasia With Ankyloblepharon and Congenital Alveolar Synechia: Expanding the Phenotypic Spectrum.

Journal: The Journal of craniofacial surgery

Published: February 04, 2026

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

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome: a case report highlighting the importance of clinical diagnosis in a rare hereditary disorder.

Journal: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

Published: October 07, 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

AEC Syndrome Latest Advances

Find the Latest Research About AEC Syndrome

Prosthetic Rehabilitation in an Adolescent With Hay-Wells Syndrome (AEC Syndrome): A Clinical Report.

Prosthetic Rehabilitation in an Adolescent With Hay-Wells Syndrome (AEC Syndrome): A Clinical Report.

Ectodermal Dysplasia With Ankyloblepharon and Congenital Alveolar Synechia: Expanding the Phenotypic Spectrum.

Ectodermal Dysplasia With Ankyloblepharon and Congenital Alveolar Synechia: Expanding the Phenotypic Spectrum.

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

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

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome: a case report highlighting the importance of clinical diagnosis in a rare hereditary disorder.

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome: a case report highlighting the importance of clinical diagnosis in a rare hereditary disorder.

Therapeutic p63 isoform switching rescues epidermal defects in AEC syndrome.

Therapeutic p63 isoform switching rescues epidermal defects in AEC syndrome.

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

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

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

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

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.

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.

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.

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.

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.