Genetic mutations in Gorlin-Goltz syndrome.
Indian J Hum Genet
;
2013 July-Sept ;19 (3): 369-372
Article
in English
| IMSEAR
| ID: sea-156597
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.
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Index:
IMSEAR (South-East Asia)
Language:
English
Journal:
Indian J Hum Genet
Year:
2013
Type:
Article
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