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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Horm Res Paediatr
Prif Awduron: Kocaay, Pınar, Şiklar, Zeynep, Ellard, Sian, Yagmurlu, Aydın, Çamtosun, Emine, Erden, Esra, Berberoglu, Merih, Flanagan, Sarah E.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: S. Karger AG 2016
Pynciau:
Novel Insights from Clinical Practice
Mynediad Ar-lein: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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