Article

Targeted p63 isoform switch corrects dominant mutations in AEC syndrome without disrupting epidermal homeostasis

2025-06-26

Abstract excerpt

The transcription factor p63 is a master regulator of stratified epithelial development, and its disruption causes severe congenital defects affecting the skin, limbs, and craniofacial structures in both humans and mice. Among p63-related disorders, Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome is caused by dominant mutations primarily affecting the Sterile Alpha Motif (SAM) domain and the Tra...

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Literature Corpus work: d91c89e4-9488-5285-8ece-88559ec935e2
DOI: 10.1101/2025.06.24.661308

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