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Document type:
Zeitschriftenaufsatz 
Author(s):
Philippi, Anne; Heller, Sandra; Costa, Ivan G.; Senée, Valérie; Breunig, Markus; Li, Zhijian; Kwon, Gino; Russell, Ronan; Illing, Anett; Lin, Qiong; Hohwieler, Meike; Degavre, Anne; Zalloua, Pierre; Liebau, Stefan; Schuster, Michael; Krumm, Johannes; Zhang, Xi; Geusz, Ryan; Benthuysen, Jacqueline R.; Wang, Allen; Chiou, Joshua; Gaulton, Kyle; Neubauer, Heike; Simon, Eric; Klein, Thomas; Wagner, Martin; Nair, Gopika; Besse, Céline; Dandine-Roulland, Claire; Olaso, Robert; Deleuze, Jean-François;...    »
 
Title:
Mutations and variants of ONECUT1 in diabetes 
Abstract:
Genes involved in distinct diabetes types suggest shared disease mechanisms. Here we show that One Cut Homeobox 1 (ONECUT1) mutations cause monogenic recessive syndromic diabetes in two unrelated patients, characterized by intrauterine growth retardation, pancreas hypoplasia and gallbladder agenesis/hypoplasia, and early-onset diabetes in heterozygous relatives. Heterozygous carriers of rare coding variants of ONECUT1 define a distinctive subgroup of diabetic patients with early-onset, nonautoim...    »
 
Keywords:
BayBioMS; Disease genetics; Embryonic stem cells; Type 2 diabetes 
Journal title:
Nature Medicine 
Year:
2021 
Publisher:
Springer Science and Business Media LLC 
E-ISSN:
1078-89561546-170X 
Date of publication:
18.10.2021