Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses.
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Dysmorphology"
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
SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome
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DOI: 10.3390/genes13020252
Abstract: Opitz G/BBB syndrome (OS) is a rare genetic developmental condition characterized by congenital defects along the midline of the body. The main clinical signs are represented by hypertelorism, laryngo–tracheo–esophageal defects and hypospadias. The X-linked form… read more here.
Keywords: bbb syndrome; specc1l mutations; opitz bbb; sporadic cases ... See more keywords