Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1.
Rakkolainen
A
A
Ala-Mello
S
S
Kristo
P
P
Orpana
A
A
Järvelä
I
I
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005387:Finland; D005804:Genes, Lethal / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D009958:Orofaciodigital Syndromes / Q000235:genetics*; D010375:Pedigree; D007690:Polycystic Kidney Diseases / Q000235:genetics; D011506:Proteins / Q000235:genetics*
C115130:OFD1 protein, human; D011506:Proteins