F. Sousa

Olfactory bulb hypoplasia and congenital anosmia in PTCH1-related Gorlin-Goltz syndrome: An emerging association.

INTRODUCTION Congenital anosmia (CA) is a rare developmental condition that may occur in isolation or as part of a syndromic disorder. Gorlin-Goltz syndrome (GGS), an autosomal dominant condition most commonly caused by pathogenic variants in PTCH1, is classically characterized by cutaneous, odontogenic and skeletal ab...