Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure

Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure

Purpose: Primary ciliary dyskinesia (PCD) is a rare genetic disorder manifested with recurrent infections of respiratory tract and infertility. Mutations in more than 20 genes including the Coiled-Coil Domain Containing 40 (CCDC40) gene are associated with PCD. A Chinese proband with a clinical diag...

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Bibliographic Details
Main Authors: Lin Yang, Santasree Banerjee, Jie Cao, Xiaohong Bai, Zhijun Peng, Haixia Chen, Hui Huang, Peng Han, Shunyu Feng, Na Yi, Xueru Song, Jing Wu
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-02-01
Series:Frontiers in Genetics
Subjects:
CCDC40
PCD
targeted next-generation sequencing
mRNA expression
intracytoplasmic sperm injection
Online Access:http://journal.frontiersin.org/article/10.3389/fgene.2018.00023/full

Internet

http://journal.frontiersin.org/article/10.3389/fgene.2018.00023/full

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