Associated Papers
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
The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia.
Hannah WB et al.
Molecular Genetics & Genomic Medicine, 2019
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