Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia

Am J Med Genet A. 2008 Aug 1;146A(15):2013-7. doi: 10.1002/ajmg.a.32406.
No abstract available

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cartilage Diseases / genetics*
  • DNA Helicases / genetics
  • Endoribonucleases / genetics*
  • Hair / abnormalities
  • Humans
  • Immunologic Deficiency Syndromes / genetics*
  • Mutation
  • Osteochondrodysplasias / genetics*
  • Syndrome

Substances

  • SMARCAL1 protein, human
  • Endoribonucleases
  • mitochondrial RNA-processing endoribonuclease
  • DNA Helicases