Genetic mutations in Gorlin-Goltz syndrome

Indian Journal of Human Genetics
Muthumula Daneswari, Mutjumula Swamy Ranga Reddy

Abstract

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.

References

Mar 1, 1987·Medicine·R J Gorlin
May 20, 1999·The Journal of the American Dental Association·L Lo MuzioM Procaccini
Mar 31, 2004·International Journal of Oral and Maxillofacial Surgery·M ManfrediS Porter
Jan 19, 2006·Human Mutation·Erika LindströmPeter G Zaphiropoulos

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Citations

Jan 23, 2015·Acta Radiologica Short Reports·Parisa HajalioghliNariman Nezami

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Methods Mentioned

BETA
biopsy

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Carcinoma, Basal Cell

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