Linked Life Data

18000903

Source:http://linkedlifedata.com/resource/pubmed/id/18000903

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
24
pubmed:dateCreated
2007-12-6
pubmed:abstractText
A girl with a mild sporadic osteochondrodysplasia (OCD) similar to hypochondroplasia but with significant short stature is reported. She has been followed clinically between the ages of 9 months and 14 years. Growth remained normal throughout childhood with stature evolving about 3.5 SDs under the mean for age. By 8 years of age gradually appearing acanthosis nigricans (AN) in the neck and flanks was histopathologically confirmed. It provided the new incentive to search for specific FGFR3 mutations associated with this dermatologic abnormality. This resulted in the identification of the 1948A > C transversion predicting the K650Q missense substitution in the FGFR3 protein. Besides the expansion of the phenotypic spectrum of FGFR3-related OCDs to HCH with AN, this observation underscores the continuing adverse effect of this specific mutation upon the normal inhibitory signaling of the receptor at least in epidermal cells.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
1552-4833
pubmed:author
pubmed:copyrightInfo
(c) 2007 Wiley-Liss, Inc.
pubmed:issnType
Electronic
pubmed:day
15
pubmed:volume
143A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
3144-9
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.
pubmed:affiliation
Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium. juliaan.leroy@ugent.be
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't