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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Dettagli Bibliografici
Pubblicato in:Genes (Basel)
Autori principali: Rotunno, Roberta, Diociaiuti, Andrea, Dentici, Maria Lisa, Rinelli, Martina, Callea, Michele, Retrosi, Chiara, Zambruno, Giovanna, Bellacchio, Emanuele, El Hachem, May
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2021
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8156511/
https://ncbi.nlm.nih.gov/pubmed/34067522
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12050748
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