Congenital heart defects common in rhizomelic chondrodysplasia punctata

Am J Med Genet A. 2016 Jan;170A(1):270-2. doi: 10.1002/ajmg.a.37404. Epub 2015 Sep 26.
No abstract available

Publication types

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

MeSH terms

  • Acyltransferases / genetics
  • Child
  • Child, Preschool
  • Chondrodysplasia Punctata, Rhizomelic / genetics*
  • Female
  • Heart Defects, Congenital / epidemiology
  • Heart Defects, Congenital / genetics*
  • Humans
  • Infant
  • Male
  • Peroxisomal Targeting Signal 2 Receptor
  • Peroxisomes / pathology
  • Receptors, Cytoplasmic and Nuclear / genetics

Substances

  • Peroxisomal Targeting Signal 2 Receptor
  • Receptors, Cytoplasmic and Nuclear
  • Acyltransferases
  • glycerone-phosphate O-acyltransferase

Supplementary concepts

  • Rhizomelic chondrodysplasia punctata, type 1
  • Rhizomelic chondrodysplasia punctata, type 2
  • Rhizomelic chondrodysplasia punctata, type 3