A novel homozygous mutation of CFAP300 identified in a Chinese patient with primary ciliary dyskinesia and infertility

A novel homozygous mutation of CFAP300 identified in a Chinese patient with primary ciliary dyskinesia and infertility

Primary ciliary dyskinesia (PCD) is a clinically rare, genetically and phenotypically heterogeneous condition characterized by chronic respiratory tract infections, male infertility, tympanitis, and laterality abnormalities. PCD is typically resulted from variants in genes encoding assembly or struc...

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Bibliographic Details
Main Authors: Zheng Zhou, Qi Qi, Wen-Hua Wang, Jie Dong, Juan-Juan Xu, Yu-Ming Feng, Zhi-Chuan Zou, Li Chen, Jin-Zhao Ma, Bing Yao
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2025-01-01
Series:Asian Journal of Andrology
Subjects:
cfap300 variant
male infertility
primary ciliary dyskinesia
sperm flagella
whole-exome sequencing
Online Access:https://journals.lww.com/10.4103/aja202477
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