Linked Life Data

6953764

Source:http://linkedlifedata.com/resource/pubmed/id/6953764

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1982-8-14
pubmed:abstractText
In 6 generations of a family with the trismus-pseudocamptodactyly syndrome (TPS), we identified 53 affected individuals, 33 females and 23 males. Thirty-one of the 53 were personally examined, as were 77 unaffected relatives. The clinical findings are compared with those of previous reports. Severity of expression is highly variable, but reduced penetrance was not observed. We obtained blood specimens for linkage analysis on all 108 examined individuals. Linkage could be excluded for 16 polymorphic marker loci. The largest positive lod scores were for the BF and AK1 marker systems, being 0.9 and 0.6, respectively. Since BF and AK1 are on different chromosomes (6 and 9, respectively), these results do not indicate a location for the TPS gene.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:volume
12
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
115-20
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1982
pubmed:articleTitle
Linkage analysis with the trismus-pseudocamptodactyly syndrome.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports