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A novel mutation in the cathepsin C gene in a Pakistani family with Papillon-Lefevre Syndrome

Papillon-Lefevre syndrome (PLS; OMIM 245000) is an autosomal recessive disease caused by cathepsin C (CTSC) gene and is clinically characterized by palmoplantar keratoderma, psoriasiform lesion over the extensor surfaces and ginigivitis followed by teeth loss. CTSC gene is known to be expressed in s...

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Detalhes bibliográficos
Main Authors: Cheng, T, Kurban, M, Wajid, M, Kiuru, M, Shimomura, Y, Christiano, AM
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2921986/
https://ncbi.nlm.nih.gov/pubmed/20236208
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1468-3083.2010.03575.x
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