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...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Horm Res Paediatr
Main Authors: Kocaay, Pınar, Şiklar, Zeynep, Ellard, Sian, Yagmurlu, Aydın, Çamtosun, Emine, Erden, Esra, Berberoglu, Merih, Flanagan, Sarah E.
פורמט: Artigo
שפה:Inglês
יצא לאור: S. Karger AG 2016
נושאים:
Novel Insights from Clinical Practice
גישה מקוונת: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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