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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Detalles Bibliográficos
Autores principales: van der Velden, Jaap J. A. J., van Geel, Michel, Engelhart, Jans J., Jonkman, Marcel F., Steijlen, Peter M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6973079/
https://www.ncbi.nlm.nih.gov/pubmed/31663161
http://dx.doi.org/10.1111/1346-8138.15136

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6973079/
https://www.ncbi.nlm.nih.gov/pubmed/31663161
http://dx.doi.org/10.1111/1346-8138.15136

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