Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism

Background: Congenital hyperinsulinism (CHI) is a rare genetic disorder characterised by inappropriate insulin secretion in the face of severe hypoglycaemia. There are two histological subtypes of CHI namely diffuse and focal. Diffuse CHI is most common due to recessive mutations in ABCC8/KCNJ11 (wh...

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Detalles Bibliográficos
Autores principales: Chandran, Suresh, Peng, Fabian Yap Kok, Rajadurai, Victor Samuel, Lu, Yap Te, Chang, Kenneth T E, Flanagan, S E, Ellard, S, Hussain, Khalid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2013
Materias:
Unique/Unexpected Symptoms or Presentations of a Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922076/
https://www.ncbi.nlm.nih.gov/pubmed/24616771
http://dx.doi.org/10.1530/EDM-13-0041

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922076/
https://www.ncbi.nlm.nih.gov/pubmed/24616771
http://dx.doi.org/10.1530/EDM-13-0041

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