Associated Papers
OFD1: One gene, several disorders.
Pezzella N et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 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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