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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...

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Detalhes bibliográficos
Publicado no:J Dermatol
Main Authors: van der Velden, Jaap J. A. J., van Geel, Michel, Engelhart, Jans J., Jonkman, Marcel F., Steijlen, Peter M.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
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Acesso em linha: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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