Congenital disorder of glycosylation IIa: the trouble with diagnosing a dysmorphic inborn error of metabolism

Am J Med Genet A. 2012 Jan;158A(1):245-6. doi: 10.1002/ajmg.a.34347. Epub 2011 Nov 21.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bone Diseases, Metabolic
  • Chromosomes, Human, Pair 6 / genetics
  • Congenital Disorders of Glycosylation / diagnosis*
  • Congenital Disorders of Glycosylation / genetics*
  • Humans
  • Mutation
  • N-Acetylglucosaminyltransferases / genetics

Substances

  • N-Acetylglucosaminyltransferases
  • alpha-1,6-mannosyl-glycoprotein beta-1,2-N-acetylglucosaminyltransferase

Supplementary concepts

  • Congenital disorder of glycosylation type 2A