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Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes

1 Jan 2019

Abstract excerpt

Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are two imprinting disorders associated with opposite molecular alterations in the 11p15.5 imprinting centres. Their clinical diagnosis is confirmed by molecular testing in 50-70% of patients. The authors from different reference centres for BWS and SRS have identified single patients with unexpected and even contradictory molecular findings in...

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Share to Epigenetics and DNA Methylation
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PMID: 30829192
DOI: 10.1017/s001667231900003x

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