Associated Papers
Primary Ciliary Dyskinesia Caused by a Heterozygous Large Deletion in DNAAF11 Accompanied by a Hemizygous Nonsense Variant: A Case Report from Japan.
Ito M et al.
Internal Medicine (tokyo, Japan), 2025
A novel homozygous LRRC6 mutation causes male infertility with asthenozoospermia and primary ciliary dyskinesia in humans.
Shi S et al.
Andrology, 2025
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
Identification of novel biallelic LRRC6 variants in male Chinese patients with primary ciliary dyskinesia and infertility.
Li Y et al.
Journal of Assisted Reproduction and Genetics, 2023
Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.
Kott E et al.
American Journal of Human Genetics, 2012
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