A novel GJA1 mutation in oculodentodigital dysplasia with extensive loss of enamel.


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… (More)
DOI: 10.1111/odi.12663