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.