Linked Life Data

9415689

Source:http://linkedlifedata.com/resource/pubmed/id/9415689

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1998-1-16
pubmed:abstractText
The demonstration that mutations in the Patched (PTCH) gene cause nevoid basal cell carcinoma syndrome (NBCCS) has led to the identification of the exact molecular lesion in a percentage of individuals with the syndrome. In addition, it has been possible to determine, through molecular analysis of parents and other relatives of these individuals, if the mutation is inherited or has arisen de novo. We have previously reported 28 mutations in individuals with NBCCS, and here we present an additional 4 novel mutations. We have also analyzed relatives of a number of the individuals in whom we have found mutations. In total we have identified 8 individuals who carry a de novo mutation in the PTCH gene. In 5 of these cases, clinical and radiological examination had not unequivocally ruled out a diagnosis in one of the parents. This helps to define the clinical phenotype and suggests that diagnostic criteria in this complex syndrome may require review.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:day
19
pubmed:volume
73
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
304-7
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
De novo mutations of the Patched gene in nevoid basal cell carcinoma syndrome help to define the clinical phenotype.
pubmed:affiliation
Centre for Molecular and Cellular Biology, The University of Queensland, Brisbane, Australia.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't