Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy

BACKGROUND: Isolated hyperinsulinaemic hypoglycaemia (HH) commonly results from recessively inherited mutations in the ABCC8 and KCNJ11 genes that are located on chromosome 11p15.1. More rarely, HH can feature in patients with Beckwith-Wiedemann syndrome (BWS), a congenital overgrowth disorder, resu...

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Publicado en:Horm Res Paediatr
Autores principales: Kocaay, Pınar, Şiklar, Zeynep, Ellard, Sian, Yagmurlu, Aydın, Çamtosun, Emine, Erden, Esra, Berberoglu, Merih, Flanagan, Sarah E.
Formato: Artigo
Lenguaje:Inglês
Publicado: S. Karger AG 2016
Materias:
Novel Insights from Clinical Practice
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5079068/
https://ncbi.nlm.nih.gov/pubmed/27173951
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000446153
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