Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene

J Med Genet. 2003 Oct;40(10):761-6. doi: 10.1136/jmg.40.10.761.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Anemia, Aplastic / diagnosis
  • Anemia, Aplastic / genetics*
  • Dwarfism / diagnosis
  • Dwarfism / diagnostic imaging
  • Dwarfism / genetics*
  • Endoribonucleases / genetics*
  • Female
  • Femur / abnormalities
  • Genetic Predisposition to Disease
  • Humans
  • Immunologic Deficiency Syndromes / diagnosis
  • Immunologic Deficiency Syndromes / genetics*
  • Immunologic Deficiency Syndromes / pathology
  • Infant
  • Lower Extremity Deformities, Congenital / diagnosis
  • Lymph Nodes / pathology
  • Mutation*
  • Osteochondrodysplasias / diagnosis
  • Radiography
  • Syndrome
  • Thymus Gland / pathology

Substances

  • Endoribonucleases
  • mitochondrial RNA-processing endoribonuclease

Associated data

  • OMIM/250250
  • OMIM/250460