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

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 belonging...

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Pubblicato in:Orphanet J Rare Dis
Autori principali: Mendoza-Caamal, Elvia C., Barajas-Olmos, Francisco, Mirzaeicheshmeh, Elaheh, Ilizaliturri-Flores, Ian, Aguilar-Salinas, Carlos A., Gómez-Velasco, Donaji V., Cicerón-Arellano, Isabel, Reséndiz-Rodríguez, Adriana, Martínez-Hernández, Angélica, Contreras-Cubas, Cecilia, Islas-Andrade, Sergio, Zerrweck, Carlos, García-Ortiz, Humberto, Orozco, Lorena
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2021
Soggetti:
Research
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8247206/
https://ncbi.nlm.nih.gov/pubmed/34193236
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01924-z
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