Malta (MYH9 Associated Elastin Aggregation) Syndrome: Germline Variants in MYH9 Cause Rare Sweat Duct Proliferations and Irregular Elastin Aggregations

J Invest Dermatol. 2019 Oct;139(10):2238-2241.e6. doi: 10.1016/j.jid.2019.03.1151. Epub 2019 May 22.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Blood Platelet Disorders / genetics*
  • Child
  • Elastin / blood
  • Female
  • Genetic Predisposition to Disease*
  • Germ-Line Mutation
  • Hearing Loss, Sensorineural / diagnosis*
  • Hearing Loss, Sensorineural / genetics
  • Humans
  • Male
  • Myosin Heavy Chains / genetics*
  • Pedigree
  • Platelet Aggregation / genetics*
  • Rare Diseases
  • Sampling Studies
  • Sweat Glands / abnormalities*
  • Syndrome
  • Thrombocytopenia / congenital*
  • Thrombocytopenia / diagnosis
  • Thrombocytopenia / genetics
  • Young Adult

Substances

  • MYH9 protein, human
  • Elastin
  • Myosin Heavy Chains

Supplementary concepts

  • MYH9-Related Disorders