Ocular Manifestations in Patients Affected by p63-Associated Disorders: Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) and Ankyloblepharon-Ectodermal Defects-Cleft Lip Palate (AEC) Syndromes

Ocular Manifestations in Patients Affected by p63-Associated Disorders: Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) and Ankyloblepharon-Ectodermal Defects-Cleft Lip Palate (AEC) Syndromes

Background/Aims: The Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) and Ankyloblepharon–ectodermal defect–cleft lip/palate (AEC) syndromes are rare autosomal dominant diseases caused by heterozygous mutations in the p63 gene. Patients are characterized by abnormalities of the skin, teeth, and hair...

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Bibliographic Details
Main Authors: Enzo Di Iorio, Filippo Bonelli, Raluca Bievel-Radulescu, Nicolò Decastello, Stefano Ferrari, Vanessa Barbaro, Diego Ponzin
Format: Article
Language:English
Published: MDPI AG 2023-11-01
Series:Journal of Clinical Medicine
Subjects:
p63
EEC (Ectrodactily Ectodermal Displasya-Clefting)
syndrome
AEC (Ankyloblepharon-ectodermal defects-cleft lip/palate) syndrome
LSCD (limbal stem cell deficiency)
Online Access:https://www.mdpi.com/2077-0383/12/23/7377

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https://www.mdpi.com/2077-0383/12/23/7377

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