Identification of five novel SPRED1 germline mutations in Legius syndrome

Clin Genet. 2011 Jul;80(1):93-6. doi: 10.1111/j.1399-0004.2010.01618.x.
No abstract available

Publication types

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

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Adolescent
  • Adult
  • Cafe-au-Lait Spots / genetics*
  • Child
  • Female
  • Germ-Line Mutation
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Male
  • Membrane Proteins / genetics*

Substances

  • Adaptor Proteins, Signal Transducing
  • Intracellular Signaling Peptides and Proteins
  • Membrane Proteins
  • SPRED1 protein, human

Supplementary concepts

  • Legius syndrome