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., ...Daha Fazla

JOURNAL OF MEDICAL GENETICS, cilt.46, sa.3, ss.192-197, 2009 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 46 Sayı: 3
Basım Tarihi: 2009
Doi Numarası: 10.1136/jmg.2008.061820
Dergi Adı: JOURNAL OF MEDICAL GENETICS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.192-197
İstanbul Üniversitesi Adresli: Evet

Özet

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.