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Article

Methylation profiling in individuals with Russell–Silver syndrome

15 Jan 2010

Abstract excerpt

Russell-Silver syndrome (RSS) is a heterogeneous disorder associated with pre- and post-natal growth restriction and relative macrocephaly. Involvement of imprinted genes on both chromosome 7 and 11p15.5 has been reported. To further characterize the role of epimutations in RSS we evaluated the methylation status at both 11p15.5 imprinting control regions (ICRs): ICR1 associated with H19/IGF2 expression and ICR2...

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Share to Epigenetics and DNA Methylation
Share to Genetic Syndromes and Imprinting
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20082469
DOI: 10.1002/ajmg.a.33204

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