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
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.
Del Giudice E et al.
Orphanet Journal of Rare Diseases, 2014
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
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