Novel Pathogenic DNAH5 Variants in Primary Ciliary Dyskinesia: Association with Visceral Heterotaxia and Neonatal Cholestasis
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DOI: 10.1055/s-0041-1733940
Abstract: The dynein axonemal heavy chain 5 gene codes for a subunit of axonemal dynein necessary for ciliary motor function. Though research has elucidated the consequences of some variants in this gene, it is still unclear… read more here.
Keywords: primary ciliary; neonatal cholestasis; ciliary dyskinesia; heterotaxia neonatal ... See more keywords