Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1

Am J Med Genet A. 2014 Sep;164A(9):2407-11. doi: 10.1002/ajmg.a.36640. Epub 2014 Jun 20.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Amino Acid Sequence
  • Base Sequence
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Molecular Sequence Data
  • Mutagenesis, Insertional / genetics*
  • Mutation / genetics*
  • Osteochondrodysplasias / diagnostic imaging
  • Osteochondrodysplasias / genetics*
  • Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases
  • Phosphoric Monoester Hydrolases / chemistry*
  • Phosphoric Monoester Hydrolases / genetics*
  • Protein Stability
  • RNA Splice Sites / genetics
  • Radiography
  • src Homology Domains*

Substances

  • RNA Splice Sites
  • Phosphoric Monoester Hydrolases
  • INPPL1 protein, human
  • Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases

Supplementary concepts

  • Opsismodysplasia