Clinical and Genetic Study of a Pseudo-Dominant Primary Ciliary Dyskinesia Pedigree: The First DNAAF1-Associated Family Reported in Chinese Population.

Abstract excerpt

BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder typically inherited in an autosomal recessive pattern. Pseudo-dominant inheritance is exceptionally uncommon and remains poorly characterized in PCD. METHODS: We conducted a clinical and genetic study of a non-consanguineous Chinese PCD pedigree with four affected individuals across two generations. Whole exome sequencing...

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