Linked Life Data

8188211

Source:http://linkedlifedata.com/resource/pubmed/id/8188211

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1994-6-21
pubmed:abstractText
Saethre-Chotzen, Crouzon, and Jackson-Weiss syndromes are craniosynostotic autosomal dominant conditions with a wide variability in expression. Saethre-Chotzen has been mapped to chromosome 7p by L. A. Brueton et al. (1992, J. Med. Genet. 29: 681-685), the Greig cephalopolysyndactyly gene was identified at 7p13 by A. Vortkamp et al. (1991, Nature 352: 539-540), and many cases of craniosynostosis have been associated with 7p deletions. We confirmed linkage of the Saethre-Chotzen syndrome locus to chromosome 7p. The tightest linkage was to locus D7S493 (Z = 5.04, theta = 0.00), and linkage and haplotype analyses refined the location of the gene to the region between D7S513 and D7S516. Jackson-Weiss and Crouzon syndrome loci were analyzed using markers spanning the entire 7p arm and were excluded, proving that they are nonallelic to Saethre-Chotzen, Greig cephalopolysyndactyly, and the del(7p) syndromes.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0888-7543
pubmed:author
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
19
pubmed:geneSymbol
KOX3
pubmed:owner
NLM
pubmed:authorsComplete
N
pubmed:pagination
115-9
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p.
pubmed:affiliation
Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland.
pubmed:publicationType
Journal Article, Comparative Study, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't