Condition: Orofaciodigital Syndrome I


rs312262830 in OFD1 gene and Orofaciodigital Syndrome I PMID 18546297 2008 Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.

PMID 12595504 2003 OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells.

PMID 11950863 2002 Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1.

PMID 11179005 2001 Identification of the gene for oral-facial-digital type I syndrome.

PMID 16397067 2006 Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.

PMID 23033313 2013 Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.