Somatic mosaicism in MYH9 disorders: the need to carefully evaluate apparently healthy parents

Br J Haematol. 2014 Jun;165(6):885-7. doi: 10.1111/bjh.12797. Epub 2014 Feb 24.
No abstract available

Keywords: MYH9; alport manifestation; macrothrombocytopenia; mosaicism; nonmuscle myosin heavy chain-IIA.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • DNA Mutational Analysis
  • Exons
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Male
  • Molecular Motor Proteins / genetics
  • Mosaicism*
  • Mutation
  • Myosin Heavy Chains / genetics
  • Thrombocytopenia / congenital*
  • Thrombocytopenia / diagnosis
  • Thrombocytopenia / genetics

Substances

  • MYH9 protein, human
  • Molecular Motor Proteins
  • Myosin Heavy Chains

Supplementary concepts

  • MYH9-Related Disorders