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
Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.
Raidt J et al.
The European Respiratory Journal, 2024
38871375 (PubMed )
Supplement: ERJ-01769-2023.Table_E2.xlsx › AlleleFrequenciesgnomAD_22.03.2
CCDC40 mutation as a cause of infertility in a Chinese family with primary ciliary dyskinesia.
Liu L et al.
Medicine, 2021
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Shoemark A et al.
The European Respiratory Journal, 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
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
Antony D et al.
Human Mutation, 2013
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