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Article

Molecular evidence of type 2 mosaicism in Gorlin syndrome

8 Jun 2013

Abstract excerpt

We present a 12-year-old girl with a family history of Gorlin syndrome who had unilateral, segmentally arranged basaloid skin tumours present since birth, ipsilateral, palmoplantar pits of rather large size distributed along Blaschko lines, and an ipsilateral odontogenic keratocyst. The patient and her father were heterozygous for a germline mutation in the form of a single-base substitution in exon 18 of the...

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PMID: 23746055
DOI: 10.1111/bjd.12458

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