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Article

Personalized Stem Cell Therapy to Correct Corneal Defects Due to a Unique Homozygous-Heterozygous Mosaicism of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome.

Stem cells translational medicine - 1 Aug 2016

Barbaro Vanessa, Nasti Annamaria Assunta, Raffa Paolo, Migliorati Angelo, Nespeca Patrizia, Ferrari Stefano, Palumbo Elisa, Bertolin Marina, Breda Claudia, Miceli Francesco, Russo Antonella, Caenazzo Luciana, Ponzin Diego, Palù Giorgio, Parolin Cristina, Di Iorio Enzo

Abstract excerpt

UNLABELLED: : Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is a rare autosomal dominant disease caused by mutations in the p63 gene. To date, approximately 40 different p63 mutations have been identified, all heterozygous. No definitive treatments are available to counteract and resolve the progressive corneal degeneration due to a premature aging of limbal epithelial stem cells. Here, we describe a...

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Identifiers

PMID: 27151912
DOI: 10.5966/sctm.2015-0358
PMCID: PMC4954457

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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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Personalized Stem Cell Therapy to Correct Corneal Defects Due to a Unique Homozygous-Heterozygous Mosaicism of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome.PMID 27151912Read ↗

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