Response to phenotypic hetergeneity of POMT2 variants

Am J Med Genet A. 2018 Mar;176(3):746-747. doi: 10.1002/ajmg.a.38591. Epub 2018 Jan 25.
No abstract available

Publication types

  • Editorial
  • Letter

MeSH terms

  • Biological Variation, Population
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genetic Variation*
  • Humans
  • Mannosyltransferases / genetics*
  • Phenotype*
  • Walker-Warburg Syndrome / diagnosis
  • Walker-Warburg Syndrome / genetics

Substances

  • Mannosyltransferases
  • protein O-mannosyltransferase