An additional family with association of hereditary thrombocytosis and transverse limb deficiency: confirmation of a rare clinical spectrum

Am J Med Genet A. 2012 Dec;158A(12):3211-3. doi: 10.1002/ajmg.a.35656. Epub 2012 Nov 19.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Family Health
  • Humans
  • Limb Deformities, Congenital / diagnosis*
  • Limb Deformities, Congenital / genetics
  • Male
  • Thrombocytosis / diagnosis*
  • Thrombocytosis / genetics
  • Thrombopoietin / genetics
  • Young Adult

Substances

  • Thrombopoietin