Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review

Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review

Ectodermal dysplasia-syndactyly syndrome 1 (EDSS1) is characterized by cutaneous syndactyly of the toes and fingers and abnormalities of the hair and teeth, variably associated with nail dystrophy and palmoplantar keratoderma (PPK). EDSS1 is caused by biallelic mutations in the NECTIN4 gene, encodin...

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Bibliographic Details
Main Authors: Roberta Rotunno, Andrea Diociaiuti, Maria Lisa Dentici, Martina Rinelli, Michele Callea, Chiara Retrosi, Giovanna Zambruno, Emanuele Bellacchio, May El Hachem
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:Genes
Subjects:
ectodermal dysplasia
syndactyly
nectin-4
hypotrichosis
hypodontia
enamel hypoplasia
Online Access:https://www.mdpi.com/2073-4425/12/5/748

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https://www.mdpi.com/2073-4425/12/5/748

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