Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL

Ophthalmic Genet. 2011 Nov;32(4):256-8. doi: 10.3109/13816810.2011.587082. Epub 2011 Jun 14.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Alternative Splicing / genetics
  • Child, Preschool
  • Cleft Lip
  • Consanguinity
  • Cornea / abnormalities
  • Female
  • Galactosyltransferases / genetics*
  • Glucosyltransferases / genetics*
  • Growth Disorders / genetics*
  • Humans
  • Limb Deformities, Congenital / genetics*
  • Point Mutation*
  • Spine / abnormalities*

Substances

  • B3GLCT protein, human
  • Galactosyltransferases
  • Glucosyltransferases

Supplementary concepts

  • Krause-Kivlin syndrome