Genetic mutations in Gorlin-Goltz syndrome

Daneswari, Muthumula; Reddy, Mutjumula Swamy Ranga
September 2013
Indian Journal of Human Genetics;Jul-Sep2013, Vol. 19 Issue 3, p369
Academic Journal
Case Study
Gorlin-Goltz syndrome is a rare multisystemic disease inherited in a dominant autosomal at a high level of penetrance and variable expressiveness. It is mainly characterized by basal cell carcinoma, odontogenic keratocyst and skeletal anomalies. Diagnosis is based upon established major and minor clinical and radiographic criteria and gene mutation analysis. This article presents a case of Gorlin-Goltz syndrome, its genetic predisposition, diagnosis and management.


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