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
Cell-cell interaction determines cell fate of mesoderm-derived cell in tongue development through Hh signaling.
Kawasaki M et al.
Elife, 2024
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
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.
Thauvin-Robinet C et al.
Journal of Medical Genetics, 2006
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