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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2009-12-3
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pubmed:abstractText |
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 teeth. The condition is caused by mutations in the cathepsin C (CTSC) gene.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
1421-9832
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pubmed:author |
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pubmed:copyrightInfo |
Copyright 2009 S. Karger AG, Basel.
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pubmed:issnType |
Electronic
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pubmed:volume |
219
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
289-94
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pubmed:dateRevised |
2010-11-2
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pubmed:meshHeading |
pubmed-meshheading:19816003-Cathepsin C,
pubmed-meshheading:19816003-Consanguinity,
pubmed-meshheading:19816003-Elbow,
pubmed-meshheading:19816003-Family,
pubmed-meshheading:19816003-Founder Effect,
pubmed-meshheading:19816003-Genetic Markers,
pubmed-meshheading:19816003-Genotype,
pubmed-meshheading:19816003-Haplotypes,
pubmed-meshheading:19816003-Humans,
pubmed-meshheading:19816003-Keratoderma, Palmoplantar,
pubmed-meshheading:19816003-Knee,
pubmed-meshheading:19816003-Lebanon,
pubmed-meshheading:19816003-Microsatellite Repeats,
pubmed-meshheading:19816003-Mutation, Missense,
pubmed-meshheading:19816003-Pakistan,
pubmed-meshheading:19816003-Papillon-Lefevre Disease,
pubmed-meshheading:19816003-Pedigree,
pubmed-meshheading:19816003-Periodontitis
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pubmed:year |
2009
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pubmed:articleTitle |
Evidence for a founder mutation in the cathepsin C gene in three families with Papillon-Lefèvre syndrome.
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pubmed:affiliation |
Department of Dermatology, Columbia University, New York, N.Y., USA.
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pubmed:publicationType |
Journal Article,
Multicenter Study,
Research Support, N.I.H., Extramural
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