Associated Papers
OFD1: One gene, several disorders.
Pezzella N et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
A novel non-sense variant in the OFD1 gene caused Joubert syndrome.
Li C et al.
Frontiers in Genetics, 2022
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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