LAUSR

Unexpected phenotype in a frameshift mutation of PTCH1

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1 Published in 2019 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.987

Abstract: Gorlin syndrome, also known as basal cell nevus syndrome (BCNS), is a rare autosomal dominant genetic condition, characterized by the presence of multiple basal cell carcinomas at a young age, odontogenic keratocysts, skeletal anomalies, macrocephaly,… read more here.

Keywords: phenotype; ptch1; unexpected phenotype; mutation ptch1 ... See more keywords