Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism

BACKGROUND: Congenital hyperinsulinism (CHI) is a clinically heterogeneous condition. Mutations in eight genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A and HNF1A) are known to cause CHI. AIM: To characterise the clinical and molecular aspects of a large cohort of patients with CHI. METHODOLO...

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Autores principales: Kapoor, Ritika R, Flanagan, Sarah E, Arya, Ved Bhushan, Shield, Julian P, Ellard, Sian, Hussain, Khalid
Formato: Artigo
Lenguaje:Inglês
Publicado: BioScientifica 2013
Materias:
Clinical Study
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3599069/
https://ncbi.nlm.nih.gov/pubmed/23345197
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EJE-12-0673
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