Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome.
van Bever
Yolande
Y
Department of Medical Genetics, University Hospital Antwerp, Edegem, Belgium. y.vanbever@erasmusmn.nl
Balemans
Wendy
W
Duval
Els L I M
EL
Jespers
Ann
A
Eyskens
François
F
van Hul
Wim
W
Courtens
Winnie
W
D055415:Bone Morphogenetic Protein 4; D019485:Bone Morphogenetic Proteins / Q000235:genetics*; D003638:Deafness / Q000201:enzymology / Q000235:genetics*; D005260:Female; D005529:Foot Bones / Q000002:abnormalities* / Q000201:enzymology; D005808:Genes, Recessive; D050276:Hand Bones / Q000002:abnormalities* / Q000201:enzymology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007655:Ketoglutarate Dehydrogenase Complex / Q000235:genetics*; D008297:Male; D010375:Pedigree; D035781:Siblings; D013577:Syndrome
C525809:BMP4 protein, human; D055415:Bone Morphogenetic Protein 4; D019485:Bone Morphogenetic Proteins; D007655:Ketoglutarate Dehydrogenase Complex