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Oral Mucosa-Derived Induced Pluripotent Stem Cells from Patients with Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome.

Cellular reprogramming - 1 Aug 2018

Trevisan Marta, Alvisi Gualtiero, Barbaro Vanessa, Barzon Luisa, Raffa Paolo, Migliorati Angelo, Desole Giovanna, Ruzittu Silvia, Masi Giulia, Di Iorio Enzo, Palù Giorgio

Abstract excerpt

Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) syndrome is a rare monogenic disease with autosomal dominant inheritance caused by mutations in the TP63 gene, leading to progressive corneal keratinocyte loss, limbal stem cell deficiency (LSCD), and eventually blindness. Currently, there is no treatment available to cure or slow down the keratinocyte loss. Human oral mucosal epithelial stem cells (hOMESCs), which...

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PMID: 29989433
DOI: 10.1089/cell.2017.0064

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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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Oral Mucosa-Derived Induced Pluripotent Stem Cells from Patients with Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome.PMID 29989433Read ↗

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