Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome

Am J Med Genet A. 2007 Apr 1;143A(7):763-7. doi: 10.1002/ajmg.a.31641.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bone Morphogenetic Protein 4
  • Bone Morphogenetic Proteins / genetics*
  • Deafness / enzymology
  • Deafness / genetics*
  • Female
  • Foot Bones / abnormalities*
  • Foot Bones / enzymology
  • Genes, Recessive*
  • Hand Bones / abnormalities*
  • Hand Bones / enzymology
  • Humans
  • Infant
  • Infant, Newborn
  • Ketoglutarate Dehydrogenase Complex / genetics*
  • Male
  • Pedigree
  • Siblings
  • Syndrome

Substances

  • BMP4 protein, human
  • Bone Morphogenetic Protein 4
  • Bone Morphogenetic Proteins
  • Ketoglutarate Dehydrogenase Complex