Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes


Bartholdi D., Krajewska-Walasek M., Ounap K., Gaspar H., Chrzanowska K. H., Ilyana H., ...More

JOURNAL OF MEDICAL GENETICS, vol.46, no.3, pp.192-197, 2009 (SCI-Expanded, Scopus)

  • Publication Type: Article / Article
  • Volume: 46 Issue: 3
  • Publication Date: 2009
  • Doi Number: 10.1136/jmg.2008.061820
  • Journal Name: JOURNAL OF MEDICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.192-197
  • Istanbul University Affiliated: Yes

Abstract

Background: Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous condition characterised by severe intrauterine and postnatal growth retardation. Loss of DNA methylation at the telomeric imprinting control region 1 (ICR1) on 11p15 is an important cause of SRS.