Severe connective tissue laxity including aortic dilatation in Sotos syndrome

Am J Med Genet A. 2016 Feb;170A(2):531-535. doi: 10.1002/ajmg.a.37402. Epub 2015 Nov 27.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Aortic Diseases / etiology*
  • Aortic Diseases / pathology
  • Connective Tissue Diseases / etiology*
  • Connective Tissue Diseases / pathology
  • Female
  • Histone Methyltransferases
  • Histone-Lysine N-Methyltransferase
  • Humans
  • Infant
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Male
  • Mutation / genetics*
  • Nuclear Proteins / genetics*
  • Pedigree
  • Sotos Syndrome / complications*
  • Sotos Syndrome / genetics

Substances

  • Intracellular Signaling Peptides and Proteins
  • Nuclear Proteins
  • Histone Methyltransferases
  • Histone-Lysine N-Methyltransferase
  • NSD1 protein, human