A Novel Compound Heterozygous Mutation in the DNAH11 Gene Found in Neonatal Twins With Primary Ciliary Dyskinesis

A Novel Compound Heterozygous Mutation in the DNAH11 Gene Found in Neonatal Twins With Primary Ciliary Dyskinesis

Background: Primary ciliary dyskinesia (PCD) is a rare genetically heterogeneous disorder of motile cilia. Common features of PCD include upper and lower respiratory tract disease, secretory otitis media, situs inversus and fertility problems. To date, although several PCD-associated genes have been...

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Bibliographic Details
Main Authors: Shumei Dong, Fei Bei, Tingting Yu, Luming Sun, Xiafang Chen, Hui Yan
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-02-01
Series:Frontiers in Genetics
Subjects:
monozygotic twins
situs inversus
DNAH11
primary ciliary dyskinesia
whole-exome sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.814511/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.814511/full

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