Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology
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DOI: 10.1136/jmedgenet-2018-105463
Abstract: Background Recently, a patient with maternal uniparental disomy of chromosome 16 (UPD(16)mat) presenting with Silver-Russell syndrome (SRS) phenotype was reported. SRS is characterised by growth failure and dysmorphic features. Objective To clarify the prevalence of… read more here.
Keywords: russell syndrome; silver russell; upd mat; phenotype unknown ... See more keywords