De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction

Am J Med Genet A. 2012 Apr;158A(4):927-31. doi: 10.1002/ajmg.a.35231. Epub 2012 Mar 12.
No abstract available

Publication types

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

MeSH terms

  • Child
  • Child, Preschool
  • Corneal Opacity / congenital
  • Corneal Opacity / enzymology
  • Corneal Opacity / genetics*
  • Cutis Laxa / congenital*
  • Cutis Laxa / enzymology
  • Cutis Laxa / genetics
  • Female
  • Humans
  • Intellectual Disability / enzymology
  • Intellectual Disability / genetics*
  • Male
  • Pyrroline Carboxylate Reductases / genetics*
  • delta-1-Pyrroline-5-Carboxylate Reductase

Substances

  • Pyrroline Carboxylate Reductases

Supplementary concepts

  • De Barsy syndrome