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

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...

Source: BMC Pediatrics - December 5, 2023 Category: Pediatrics Authors: Lili Dong, Lei Zhang, Xiao Li, Shiyue Mei, Yuelin Shen, Libing Fu, Shunying Zhao, Xiaolei Tang and Yu Tang Tags: Research Source Type: research