Indian Journal of Human Genetics
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CASE REPORT
Year : 2013  |  Volume : 19  |  Issue : 3  |  Page : 369-372

Genetic mutations in Gorlin-Goltz syndrome


1 Department of Pedodontics, Mamatha Dental College, Khammam, Andhra Pradesh, India
2 Department of Endodontics, Panineeya Mahavidyalaya Institute of Dental Sciences, Hyderabad, Andhra Pradesh, India

Correspondence Address:
Muthumula Daneswari
Department of Pedodontics, Mamatha Dental College, Khammam, Andhra Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-6866.120810

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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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