Congenital hyperinsulinism and mosaic abnormalities of the ploidy

BACKGROUND: Congenital hyperinsulinism and Beckwith‐Wiedemann syndrome both lead to β 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 th...

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Autors principals: Giurgea, I, Sanlaville, D, Fournet, J‐C, Sempoux, C, Bellanné‐Chantelot, C, Touati, G, Hubert, L, Groos, M‐S, Brunelle, F, Rahier, J, Henquin, J‐C, Dunne, M J, Jaubert, F, Robert, J‐J, Nihoul‐Fékété, C, Vekemans, M, Junien, C, de Lonlay, P
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 2006
Matèries:
Letter to JMG
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2563246/
https://ncbi.nlm.nih.gov/pubmed/16033916
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.034116
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