Unbalanced Expression of 11p15 Imprinted Genes in Focal Forms of Congenital Hyperinsulinism : Association with a Reduction to Homozygosity of a Mutation in ABCC8 or KCNJ11

Congenital hyperinsulinism (CHI), previously named persistent hyperinsulinemic hypoglycemia of infancy, is characterized by profound hypoglycemia because of excessive insulin secretion. CHI presents as two different morphological forms: a diffuse form with functional abnormality of islets throughout...

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Autors principals: Fournet, Jean-Christophe, Mayaud, Christine, de Lonlay, Pascale, Gross-Morand, Marie-Sylvie, Verkarre, Virginie, Castanet, Mireille, Devillers, Martine, Rahier, Jacques, Brunelle, Francis, Robert, Jean-Jacques, Nihoul-Fékété, Claire, Saudubray, Jean-Marie, Junien, Claudine
Format: Artigo
Idioma:Inglês
Publicat: American Society for Investigative Pathology 2001
Matèries:
Regular Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1891997/
https://ncbi.nlm.nih.gov/pubmed/11395395
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