Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China.

CONCLUSION: Besides typical clinical features, PIBO was often observed as first presentation of pediatric PCD in China. High HYDIN variant frequency and an association of DNAH14 with PCD were observed, demonstrating PCD genetic heterogeneity in China and expanding the PCD genotypic spectrum.
PMID: 32622824 [PubMed - as supplied by publisher]

Source: Chest - July 1, 2020 Category: Respiratory Medicine Authors: Guan Y, Yang H, Yao X, Xu H, Liu H, Tang X, Hao C, Zhang X, Zhao S, Ge W, Ni X Tags: Chest Source Type: research