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rdf:type |
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lifeskim:mentions |
umls-concept:C0017337,
umls-concept:C0025221,
umls-concept:C0030705,
umls-concept:C0041388,
umls-concept:C0205314,
umls-concept:C0599155,
umls-concept:C0679058,
umls-concept:C0679622,
umls-concept:C1547699,
umls-concept:C1709269,
umls-concept:C2700640
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pubmed:issue |
6
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|
pubmed:dateCreated |
2003-12-16
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pubmed:databankReference |
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pubmed:abstractText |
Mal de Meleda (MDM) is a rare autosomal recessive skin disorder which belongs to the clinically and genetically heterogeneous group of palmoplantar keratodermas (PPK). Clinically, MDM is characterized by erythema and hyperkeratosis of the palms and soles with sharp demarcation that appears soon after birth and progressively extends to the dorsal surface of the hands and feet.
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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:month |
Dec
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pubmed:issn |
0007-0963
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pubmed:author |
pubmed-author:AbdelhakSS,
pubmed-author:BaccoucheDD,
pubmed-author:Ben MousliRR,
pubmed-author:Ben OsmanAA,
pubmed-author:BoubakerSS,
pubmed-author:BouchlakaCC,
pubmed-author:CharfeddineCC,
pubmed-author:DellagiKK,
pubmed-author:ElkaresRR,
pubmed-author:GhedamsiSS,
pubmed-author:MokniMM
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pubmed:issnType |
Print
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pubmed:volume |
149
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1108-15
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:14674887-Antigens, Ly,
pubmed-meshheading:14674887-Base Sequence,
pubmed-meshheading:14674887-DNA Mutational Analysis,
pubmed-meshheading:14674887-Female,
pubmed-meshheading:14674887-Genetic Markers,
pubmed-meshheading:14674887-Genotype,
pubmed-meshheading:14674887-Humans,
pubmed-meshheading:14674887-Infant,
pubmed-meshheading:14674887-Keratoderma, Palmoplantar,
pubmed-meshheading:14674887-Linkage Disequilibrium,
pubmed-meshheading:14674887-Male,
pubmed-meshheading:14674887-Molecular Sequence Data,
pubmed-meshheading:14674887-Mutation, Missense,
pubmed-meshheading:14674887-Pedigree,
pubmed-meshheading:14674887-Tunisia,
pubmed-meshheading:14674887-Urokinase-Type Plasminogen Activator
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pubmed:year |
2003
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pubmed:articleTitle |
A novel missense mutation in the gene encoding SLURP-1 in patients with Mal de Meleda from northern Tunisia.
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pubmed:affiliation |
Laboratoire d'Immunologie, Vaccinologie et Génétique Moléculaire, Institut Pasteur de Tunis, BP 74, 13 Place Pasteur, 1002 Tunis Belvédère, Tunisia.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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