Associated Papers
A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa.
Chen L et al.
Pharmacogenomics and Personalized Medicine, 2025
OFD1: One gene, several disorders.
Pezzella N et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
The molecular basis of oral-facial-digital syndrome, type 1.
Macca M et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2009
Novel functional features of the Lis-H domain: role in protein dimerization, half-life and cellular localization.
Gerlitz G et al.
Cell Cycle (georgetown, Tex.), 2005
Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1.
Rakkolainen A et al.
Journal of Medical Genetics, 2002
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