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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…
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Keywords:
exome sequencing;
bbb syndrome;
opitz bbb;
combined ultrasound ... See more keywords
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Published in 2022 at "Genes"
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…
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Keywords:
bbb syndrome;
specc1l mutations;
opitz bbb;
sporadic cases ... See more keywords