" /> Focal KATP-Associated Hyperinsulinism - CISMeF





Preferred Label : Focal KATP-Associated Hyperinsulinism;

Alternative definition : NICHD: KATP-associated hyperinsulinism in which there is an area of adenomatous beta-cell hyperplasia. This condition results from paternal recessive mutation(s) in either the ABCC8 or the KCNJ11 gene and paternal uniparental isodisomy of chromosome region 11p15 with loss of tumor suppressor genes expressed from the maternally inherited chromosome.;

NCI Metathesaurus CUI : CL514286;

Détails


Vous pouvez consulter :


Nous contacter.
30/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.