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
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome
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DOI: 10.1186/s13073-019-0633-y
Abstract: BackgroundIntrachromosomal triplications (TRP) can contribute to disease etiology via gene dosage effects, gene disruption, position effects, or fusion gene formation. Recently, post-zygotic de novo triplications adjacent to copy-number neutral genomic intervals with runs of homozygosity… read more here.
Keywords: template switching; mechanism; temple syndrome; template ... See more keywords