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MALAGOLI , Marcella

Last name: MALAGOLI

First name: Marcella

2014 (v1)

Publication

Metadata-only

Skeletal and cranio-facial signs in Gorlin syndrome from ancient Egypt to the modern age: Sphenoid asymmetry in a patient with a novel PTCH1 mutation

Ponti, Giovanni Ruini, Cristel Pastorino, Lorenza

Gorlin syndrome is an autosomal dominant disorder linked to PTCH1 mutation, identified by a collection of clinical and radiologic signs. We describe the case of a family in which father and son fulfilled clear cut diagnostic criteria for Gorlin syndrome including multiple basal cell carcinomas, keratocystic odontogenic tumors, atypical skeletal...

Uploaded on: April 14, 2023