Clinical utility gene card for: Beckwith-Wiedemann Syndrome

Eur J Hum Genet. 2014 Mar;22(3). doi: 10.1038/ejhg.2013.132. Epub 2013 Jul 3.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Beckwith-Wiedemann Syndrome / diagnosis*
  • Beckwith-Wiedemann Syndrome / genetics
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 11 / genetics
  • Cyclin-Dependent Kinase Inhibitor p57 / genetics*
  • Female
  • Genetic Testing*
  • Humans
  • Infant
  • Infant, Newborn
  • Insulin-Like Growth Factor II / genetics*
  • KCNQ1 Potassium Channel / genetics*
  • Male
  • RNA, Long Noncoding / genetics*

Substances

  • CDKN1C protein, human
  • Cyclin-Dependent Kinase Inhibitor p57
  • H19 long non-coding RNA
  • IGF2 protein, human
  • KCNQ1 Potassium Channel
  • KCNQ1 protein, human
  • RNA, Long Noncoding
  • Insulin-Like Growth Factor II

Associated data

  • OMIM/OMIM130650