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Evidence for a Founder Mutation in the Cathepsin C Gene in Three Families with Papillon-Lefèvre Syndrome

BACKGROUND: Papillon-Lefèvre syndrome (PLS; OMIM 245000) is a rare autosomal recessive disorder. Clinically, PLS is characterized by hyperkeratosis involving the palms, soles, elbows and knees which is followed later on by periodontitis, destruction of alveolar bone and loss of primary and permanent...

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Autori principali: Kurban, Mazen, Wajid, Muhammad, Shimomura, Yutaka, Bahhady, Ruba, Kibbi, Abdul-Ghani, Christiano, Angela M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: S. Karger AG 2009
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2813799/
https://ncbi.nlm.nih.gov/pubmed/19816003
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000245341
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