Associated Papers
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
OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells.
Romio L et al.
Journal of the American Society of Nephrology : Jasn, 2003
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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