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Article

Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations.

Ophthalmology - 1 Jan 2012

Di Iorio Enzo, Kaye Stephen B, Ponzin Diego, Barbaro Vanessa, Ferrari Stefano, Böhm Elisabetta, Nardiello Paola, Castaldo Giuseppe, McGrath John A, Willoughby Colin E

Abstract excerpt

OBJECTIVE: To describe the ocular phenotype in patients with ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome (MIM#604292) and to determine the pathogenic basis of visual morbidity. DESIGN: Retrospective case series. PARTICIPANTS: Nineteen families (23 patients) affected by EEC syndrome from the United Kingdom, Ireland, and Italy. METHODS: General medical examination to fulfill the diagnostic criteria...

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Identifiers

PMID: 21959367
DOI: 10.1016/j.ophtha.2011.06.044

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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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