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
Clinical spectrum of male patients with OFD1 mutations.
Sakakibara N et al.
Journal of Human Genetics, 2019
Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1.
Linpeng S et al.
Biomed Research International, 2018
Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients.
Tsurusaki Y et al.
Clinical Genetics, 2013
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
Coene KL et al.
American Journal of Human Genetics, 2009
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