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A Study on the Genetics of Primary Ciliary Dyskinesia

30 Oct 2021

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a poorly understood disorder. It is primarily autosomal recessive and is prevalent in tribal communities of the United Arab Emirates due to consanguineous marriages. This retrospective study aimed to assess the pathogenicity of the genetic variants of PCD in indigenous patients with significant clinical respiratory problems. Pathogenicity scores of variants obtained from the...

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PMID: 34768622
DOI: 10.3390/jcm10215102

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