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.; Ilyana, H.; Kayserili, H.; Lurie, I.; Schinzel, A.; Baumer, A.

doi:10.1136/jmg.2008.061820

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.