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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Sparad:
Bibliografiska uppgifter
I publikationen:Horm Res Paediatr
Huvudupphovsmän: Kocaay, Pınar, Şiklar, Zeynep, Ellard, Sian, Yagmurlu, Aydın, Çamtosun, Emine, Erden, Esra, Berberoglu, Merih, Flanagan, Sarah E.
Materialtyp: Artigo
Språk:Inglês
Publicerad: S. Karger AG 2016
Ämnen:
Novel Insights from Clinical Practice
Länkar: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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