Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.
The clinical spectrum of ciliopathies affecting motile cilia spans impaired mucociliary clearance in the respiratory system, laterality defects including heart malformations, infertility and hydrocephalus. Using linkage analysis and whole exome sequencing, we identified two recessive loss-of-functio...
Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2018-08-01
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Series: | PLoS Genetics |
Online Access: | http://europepmc.org/articles/PMC6128653?pdf=render |