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Lancet. 1992 Mar 7;339(8793):581-2.

Location of gene for Gorlin syndrome.

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  • 1Department of Clinical Genetics, University of Birmingham, Birmingham Maternity Hospital, UK.

Abstract

The Gorlin (naevoid-basal-cell-carcinoma) syndrome is an autosomal dominant disorder characterised by multiple naevoid basal-cell carcinomas, recurrent odontogenic keratocysts, skeletal anomalies, intracranial calcification, and developmental malformations. Characterisation of the gene that causes the syndrome may improve our understanding of the pathogenesis of other basal-cell carcinomas. By linkage analysis, we have shown that the gene is located on chromosome 9q22.3-q31; the most likely position is between DNA markers D9S12 and D9S53. Location of the gene for Gorlin syndrome offers the possibility that DNA markers can be used in risk estimation and presymptomatic identification of patients for surveillance.

PMID:
1347096
[PubMed - indexed for MEDLINE]
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