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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2008-8-27
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pubmed:abstractText |
Hypochondroplasia (HCH) is a skeletal dysplasia inherited in an autosomal dominant manner due, in most cases, to mutations in the fibroblast growth factor receptor 3 (FGFR3). Acanthosis nigricans (AN) is a velvety and papillomatous pigmented hyperkeratosis of the skin, which has been recognized in some genetic disorders more severe than HCH involving the FGFR3 gene.
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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 |
Sep
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pubmed:issn |
1479-683X
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pubmed:author |
pubmed-author:AlonsoAdelaA,
pubmed-author:AlvarezAnaA,
pubmed-author:BarreiroJesúsJ,
pubmed-author:CabanasPalomaP,
pubmed-author:Castro-FeijóoLidiaL,
pubmed-author:DomínguezFernandoF,
pubmed-author:LoidiLourdesL,
pubmed-author:ParajesSilviaS,
pubmed-author:PomboManuelM,
pubmed-author:RosónElenaE,
pubmed-author:VidalAnxoA
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pubmed:issnType |
Electronic
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pubmed:volume |
159
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
243-9
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:18583390-Acanthosis Nigricans,
pubmed-meshheading:18583390-Adolescent,
pubmed-meshheading:18583390-Amino Acid Substitution,
pubmed-meshheading:18583390-Base Sequence,
pubmed-meshheading:18583390-Body Height,
pubmed-meshheading:18583390-DNA Mutational Analysis,
pubmed-meshheading:18583390-Humans,
pubmed-meshheading:18583390-Lysine,
pubmed-meshheading:18583390-Male,
pubmed-meshheading:18583390-Mutation, Missense,
pubmed-meshheading:18583390-Osteochondrodysplasias,
pubmed-meshheading:18583390-Pedigree,
pubmed-meshheading:18583390-Polymorphism, Single Nucleotide,
pubmed-meshheading:18583390-Receptor, Fibroblast Growth Factor, Type 3,
pubmed-meshheading:18583390-Syndrome,
pubmed-meshheading:18583390-Threonine
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pubmed:year |
2008
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pubmed:articleTitle |
Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?
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pubmed:affiliation |
Unidad de Endocrinología Pediátrica, Crecimiento y Adolescencia, Departamento de Pediatría, Hospital Clínico Universitario y Universidad de Santiago de Compostela, 15706 Santiago de Compostela, Spain.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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