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Article

Clinical and molecular characterization of Beckwith-Wiedemann syndrome in a Chinese population.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2017

Luk Ho Ming

Abstract excerpt

BACKGROUND: The objective of this study was to examine the clinical and molecular features, genotype-phenotype correlation and the efficacy of different diagnostic criteria for predicting a positive molecular test in Chinese Beckwith-Wiedemann syndrome (BWS) patients. METHODS: A retrospective tertiary-wide study was performed in Hong Kong with 27 molecularly confirmed BWS patients between January 2010 and...

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PMID: 27977403
DOI: 10.1515/jpem-2016-0094

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