Linked Life Data

12950348

Source:http://linkedlifedata.com/resource/pubmed/id/12950348

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2003-9-2
pubmed:databankReference
pubmed:abstractText
Brooke-Spiegler syndrome is an autosomal dominantly inherited disease with predisposition to neoplasms of the skin appendages. The disease has been mapped to 16q, and mutations in the CYLD gene have been identified in families with this disorder. We describe an individual with BSS exhibiting clinical heterogeneity in which a heterozygous frameshift mutation in CYLD, 2172delA, has been identified. These findings extend the body of evidence that mutations in CYLD are involved in Brooke-Spiegler syndrome and provide additional information for phenotype-genotype correlation.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0307-6938
pubmed:author
pubmed:issnType
Print
pubmed:volume
28
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
539-41
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Identification of a recurrent mutation in the CYLD gene in Brooke-Spiegler syndrome.
pubmed:affiliation
Department of Dermatology, St. Lukes-Roosevelt Hospital Center, New York, New York 10032, USA.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't