Two novel variants in DYRK1B causative of AOMS3: expanding the clinical spectrum

Two novel variants in DYRK1B causative of AOMS3: expanding the clinical spectrum

Abstract Background We investigated pathogenic DYRK1B variants causative of abdominal obesity-metabolic syndrome 3 (AOMS3) in a group of patients originally diagnosed with type 2 diabetes. All DYRK1B exons were analyzed in a sample of 509 unrelated adults with type 2 diabetes and 459 controls, all b...

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Main Authors: Elvia C. Mendoza-Caamal, Francisco Barajas-Olmos, Elaheh Mirzaeicheshmeh, Ian Ilizaliturri-Flores, Carlos A. Aguilar-Salinas, Donaji V. Gómez-Velasco, Isabel Cicerón-Arellano, Adriana Reséndiz-Rodríguez, Angélica Martínez-Hernández, Cecilia Contreras-Cubas, Sergio Islas-Andrade, Carlos Zerrweck, Humberto García-Ortiz, Lorena Orozco
Format: Article
Language:English
Published: BMC 2021-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
AOMS3
Diabetes
DYRK1B
Metabolic syndrome
Monogenic, and Obesity
Online Access:https://doi.org/10.1186/s13023-021-01924-z

Internet

https://doi.org/10.1186/s13023-021-01924-z

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