| Haim Munk syndrome and Papillon Lefevre syndrome--allelic mutations in cathepsin C with variation in phenotype. | |
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MedLine Citation:
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PMID: 20534088 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Papillon-Lefevre syndrome and Haim Munk syndrome are palmoplantar keratodermas associated with premature periodontal destruction. The additional findings of Haim Munk Syndrome include onychogryphosis, arachnodactyly, acral osteolysis and pes planus. Both are associated with mutations in the lysosomal protease cathepsin C. We describe a patient with phenotype for Haim Munk Syndrome and genetic analysis revealed a homozygous point mutation in exon 1 of the gene encoding cathepsin C. |
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Authors:
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Reena Rai; S Thiagarajan; Soumya Mohandas; Karthika Natarajan; C Shanmuga Sekar; S Ramalingam |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: International journal of dermatology Volume: 49 ISSN: 1365-4632 ISO Abbreviation: Int. J. Dermatol. Publication Date: 2010 May |
Date Detail:
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Created Date: 2010-06-10 Completed Date: 2010-09-27 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0243704 Medline TA: Int J Dermatol Country: United States |
Other Details:
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Languages: eng Pagination: 541-3 Citation Subset: IM |
Affiliation:
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Department of Dermatology, PSG Institute of Medical Science & Research, Coimbatore, Tamil Nadu, India. drreena_rai@yahoo.co.in |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Alleles Cathepsin C / genetics* Exons / genetics Humans Male Papillon-Lefevre Disease / genetics*, pathology, radiography Point Mutation* |
| Chemical | |
Reg. No./Substance:
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EC 3.4.14.1/Cathepsin C |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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