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Papillon-Lefevre Syndrome

BACKGROUND: Papillon-Lefevre syndrome is a rare autosomal recessive disorder caused by cathepsin C gene mutation leading to the deficiency of cathepsin C enzymatic activity. The disease is characterized by palmoplantar hyperkeratosis, loss of deciduous and permanent teeth and increased susceptibilit...

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Bibliographic Details
Main Authors: Ahmad, Mashkoor, Hassan, Iffat, Masood, Qazi
Format: Artigo
Language:Inglês
Published: Specjalisci Dermatolodzy 2009
Subjects:
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3163345/
https://ncbi.nlm.nih.gov/pubmed/21886733
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3315/jdcr.2009.1039
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