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Research Article: Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2

Date Published: 2023-12-05

Abstract:
The study describes the clinical manifestations and variant screening of two Chinese siblings with primary ciliary dyskinesia (PCD). They carry the same DNAAF2 genotype, which is an extremely rare PCD genotype in the Chinese population. In addition, the study illustrated an overview of published variants on DNAAF2 to date.

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