Paternal uniparental isodisomy of chromosome 11p15.5 within the pancreas causes isolated hyperinsulinaemic hypoglycaemia

BackgroundLoss of function mutations in the genes encoding the pancreatic β-cell ATP-sensitive potassium (KATP) channel are identified in approximately 80% of patients with diazoxide-unresponsive hyperinsulinaemic-hypoglycaemia (HH). For a small number of patients HH can occur as part of a multisyst...

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Principais autores:	Sarah E Flanagan, Ritika R Kapoor, Virpi V. Smith, Khalid eHussain, Sian eEllard
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2011-11-01
coleção:	Frontiers in Endocrinology
Assuntos:	Beckwith-Wiedemann Syndrome Uniparental Disomy Hyperinsulinaemic hypoglycaemia
Acesso em linha:	http://journal.frontiersin.org/Journal/10.3389/fendo.2011.00066/full
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