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Article

A novel GJA 1 mutation in oculodentodigital dysplasia with extensive loss of enamel

4 Mar 2017

Abstract excerpt

OBJECTIVE: To characterize clinical features and identify genetic causes of a patient with oculodentodigital dysplasia (ODDD). SUBJECTS AND METHODS: Clinical, dental, radiological features were obtained. DNA was collected from an affected Thai family. Whole-exome sequencing was employed to identify the disease-causing mutation causing ODDD. The presence of the identified variant was confirmed by Sanger...

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PMID: 28258662
DOI: 10.1111/odi.12663

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