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Article

Congenital hyperinsulinism and mosaic abnormalities of the ploidy

20 Jul 2005

Abstract excerpt

BACKGROUND: Congenital hyperinsulinism and Beckwith-Wiedemann syndrome both lead to beta islet hyperplasia and neonatal hypoglycaemia. They may be related to complex genetic/epigenetic abnormalities of the imprinted 11p15 region. The possibility of common pathophysiological determinants has not been thoroughly investigated. OBJECTIVE: To report abnormalities of the ploidy in two unrelated patients with congenital...

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PMID: 16033916
DOI: 10.1136/jmg.2005.034116

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