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Silver – Russell syndrome Emma L Wakeling
Silver–Russell syndrome (SRS) is characterised by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, triangular face, asymmetry and feeding diffi culties. As many of these features are non-specifi c, clinical diagnosis of SRS remains diffi cult. Hypomethylation of the imprinting control region (ICR) 1 on chromosome 11p15 and maternal uniparental disomy (mUPD) for chr...
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ژورنال
عنوان ژورنال: Genome Biology
سال: 2003
ISSN: 1465-6906
DOI: 10.1186/gb-spotlight-20030731-01