Molecular pathology of Shprintzen-Goldberg syndrome

Am J Med Genet A. 2006 Jan 1;140(1):104-8; author reply 109-10. doi: 10.1002/ajmg.a.31006.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Alternative Splicing / genetics
  • Child
  • Child, Preschool
  • Craniofacial Abnormalities / pathology
  • Craniosynostoses / pathology*
  • DNA Mutational Analysis
  • Fibrillins
  • Fingers / abnormalities*
  • Heart Defects, Congenital / pathology
  • Humans
  • Male
  • Marfan Syndrome / pathology
  • Microfilament Proteins / genetics*
  • Mutation*
  • Mutation, Missense
  • Protein Serine-Threonine Kinases
  • Receptor, Transforming Growth Factor-beta Type II
  • Receptors, Transforming Growth Factor beta / genetics*
  • Syndrome

Substances

  • Fibrillins
  • Microfilament Proteins
  • Receptors, Transforming Growth Factor beta
  • Protein Serine-Threonine Kinases
  • Receptor, Transforming Growth Factor-beta Type II