Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses.
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DOI: 10.1097/mcd.0000000000000152
Abstract: Orofacial clefts are the most common congenital craniofacial anomalies and can occur as an isolated defect or be associated with other anomalies such as posterior fossa anomalies as a part of several genetic syndromes. We… read more here.
Keywords: exome sequencing; bbb syndrome; opitz bbb; combined ultrasound ... See more keywords