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Article

Allele-specific silencing of EEC p63 mutant R304W restores p63 transcriptional activity.

Cell death & disease - 19 May 2016

Novelli F, Lena A M, Panatta E, Nasser W, Shalom-Feuerstein R, Candi E, Melino G

Abstract excerpt

EEC (ectrodactily-ectodermal dysplasia and cleft lip/palate) syndrome is a rare genetic disease, autosomal dominant inherited. It is part of the ectodermal dysplasia disorders caused by heterozygous mutations in TP63 gene. EEC patients present limb malformations, orofacial clefting, skin and skin's appendages defects, ocular abnormalities. The transcription factor p63, encoded by TP63, is a master gene for the...

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PMID: 27195674
DOI: 10.1038/cddis.2016.118
PMCID: PMC4917656

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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