Associated Papers
Expanding the Genotypic and Phenotypic Spectrum of OFD1-Related Conditions: Three More Cases.
Kyian T et al.
Genes, 2024
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
OFD1: One gene, several disorders.
Pezzella N et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
Identification of a Novel OFD1 Variant in a Patient with Primary Ciliary Dyskinesia.
Yang B et al.
Pharmacogenomics and Personalized Medicine, 2022
Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms.
Bukowy-Bieryllo Z et al.
Journal of Medical Genetics, 2019
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