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
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
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
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