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
Date
2009Author
Ilyana, H.
Baumer, A.
Chrzanowska, K. H.
Lurie, I. W.
Schinzel, A.
Kayserili, H.
Bartholdi, D.
Krajewska-Walasek, M.
Ounap, K.
Gaspar, H.
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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.
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