Case Report: DNAAF4 Variants Cause Primary Ciliary Dyskinesia and Infertility in Two Han Chinese Families

Case Report: DNAAF4 Variants Cause Primary Ciliary Dyskinesia and Infertility in Two Han Chinese Families

Background: Primary ciliary dyskinesia (PCD) is a rare genetic disorder, predominantly autosomal recessive. The dynein axonemal assembly factor 4 (DNAAF4) is mainly involved in the preassembly of multisubunit dynein protein, which is fundamental to the proper functioning of cilia and flagella. There...

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Bibliographic Details
Main Authors: Ting Guo, Chenyang Lu, Danhui Yang, Cheng Lei, Ying Liu, Yingjie Xu, Binyi Yang, Rongchun Wang, Hong Luo
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-07-01
Series:Frontiers in Genetics
Subjects:
primary ciliary dyskinesia
scoliosis
DNAAF4
bronchiectasis
situs inversus
asthenoteratozoospermia
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.934920/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.934920/full

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