Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations

Clin Genet. 2010 May;77(5):507-9. doi: 10.1111/j.1399-0004.2009.01349.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Bone Diseases, Developmental / complications*
  • Bone Diseases, Developmental / diagnostic imaging
  • Bone Diseases, Developmental / enzymology
  • Bone Diseases, Developmental / genetics*
  • Female
  • Glucosyltransferases / genetics*
  • Glycosylation
  • Humans
  • Infant
  • Infant, Newborn
  • Limb Deformities, Congenital / complications*
  • Limb Deformities, Congenital / diagnostic imaging
  • Limb Deformities, Congenital / enzymology
  • Limb Deformities, Congenital / genetics*
  • Male
  • Membrane Proteins / genetics*
  • Mutation / genetics*
  • Pregnancy
  • Radiography

Substances

  • Membrane Proteins
  • ALG6 protein, human
  • Glucosyltransferases