Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp

Peeling skin disease is a rare genodermatosis characterized by superficial exfoliation or peeling of the skin. Peeling skin disease is caused by biallelic mutations in CDSN as an autosomal recessive trait. Monoallelic mutations in CDSN have also been described in an autosomal dominant inherited geno...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Dermatol
Egile Nagusiak: van der Velden, Jaap J. A. J., van Geel, Michel, Engelhart, Jans J., Jonkman, Marcel F., Steijlen, Peter M.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley and Sons Inc. 2019
Gaiak:
Original Articles
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6973079/
https://ncbi.nlm.nih.gov/pubmed/31663161
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/1346-8138.15136
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