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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Detalles Bibliográficos
Autores principales: Rotunno, Roberta, Diociaiuti, Andrea, Dentici, Maria Lisa, Rinelli, Martina, Callea, Michele, Retrosi, Chiara, Zambruno, Giovanna, Bellacchio, Emanuele, El Hachem, May
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8156511/
https://www.ncbi.nlm.nih.gov/pubmed/34067522
http://dx.doi.org/10.3390/genes12050748

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