Associated Papers
Identification of a Homozygous Mutation of CCDC40 in a Chinese Infertile Man with MMAF and PCD-like Phenotypes.
Liu Z et al.
Genetic Testing and Molecular Biomarkers, 2024
38837151 (PubMed )
Supplement: sj-pdf-4-gtm-10.1089_gtmb.2023.0263.pdf
CCDC40 mutation as a cause of infertility in a Chinese family with primary ciliary dyskinesia.
Liu L et al.
Medicine, 2021
CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature.
Sui W et al.
The Clinical Respiratory Journal, 2016
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.
Becker-Heck A et al.
Nature Genetics, 2011
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