Epigenotype–phenotype correlations in Silver–Russell syndrome

Wakeling, Emma; A. Amero, S.; Alders, Mariëlle; Bliek, Jet; Forsythe, Elizabeth; Kumar, Sudhesh; Lim, Derek; MacDonald, Fiona; Mackay, Deborah; R. Maher, Eamonn; E. Moore, Gudrun; Poole, RL; M. Price, S.; Tangeraas, Trine; L. S. Turner, C.; M. van Haelst, Mieke; Willoughby, Catherine; Karen Temple, I.; M. Cobben, J.

doi:10.1136/jmg.2010.079111

Public

Epigenotype–phenotype correlations in Silver–Russell syndrome

Published in Journal of Medical Genetics • Aug 3, 2010

Authors:

Emma Wakeling

S. A. Amero

Mariëlle Alders

Abstract

BACKGROUND: Silver-Russell syndrome (SRS) is characterised by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, triangular face and asymmetry. Maternal uniparental disomy (mUPD) of chromosome 7 and hypomethylation of the imprinting control region (ICR) 1 on chromosome 11...

Subject

Phenotype

Psychology

Genetics

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