Portuguese case of Smith-McCort syndrome caused by a new mutation in the Dymeclin (FLJ20071) gene

Clin Dysmorphol. 2009 Jan;18(1):41-44. doi: 10.1097/MCD.0b013e32831868ea.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics
  • Child
  • Female
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Mutation*
  • Portugal
  • Proteins / genetics*
  • Syndrome

Substances

  • DYM protein, human
  • Intracellular Signaling Peptides and Proteins
  • Proteins