Linked Life Data

17036334

Source:http://linkedlifedata.com/resource/pubmed/id/17036334

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
22
pubmed:dateCreated
2006-11-1
pubmed:abstractText
Saethre-Chotzen syndrome is caused by mutations in the TWIST gene on chromosome 7p21.2. However, Muenke et al. [(1997); Am J Hum Genet 91: 555-564] described a new subgroup carrying the Pro250Arg mutation in the fibroblast growth factor receptor (FGFR) 3 gene on chromosome 4p16. Uni or bicoronal synostosis appears to be the main clinical finding in both syndromes. We observed trigonocephaly as a new manifestation in Muenke syndrome. As a consequence we advise to routinely perform mutation analysis of the FGFR1, 2, and 3 genes in children with non-syndromic trigonocephaly.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
1552-4825
pubmed:author
pubmed:copyrightInfo
(c) 2006 Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
140
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
2493-4
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Trigonocephaly in Muenke syndrome.
pubmed:affiliation
Department of Plastic and Reconstructive Surgery, Dutch National Craniofacial Center, Erasmus Medical Centre, Rotterdam, The Netherlands. j.vandermeulen@erasmusmc.nl
pubmed:publicationType
Journal Article, Case Reports