Maturity-onset diabetes of the young in a large Portuguese cohort
Author:
Publisher
Springer Science and Business Media LLC
Subject
Endocrinology,General Medicine,Endocrinology, Diabetes and Metabolism,Internal Medicine
Link
https://link.springer.com/content/pdf/10.1007/s00592-022-01980-2.pdf
Reference44 articles.
1. Zhang H, Colclough K, Gloyn AL (2021) Monogenic diabetes: a gateway to precision medicine in diabetes. J Clin Invest 131(3):e142244. https://doi.org/10.1172/JCI142244
2. Vaxillaire M, Froguel P (2016) Monogenic diabetes: implementation of translational genomic research towards precision medicine. J Diabetes 8(6):782–795. https://doi.org/10.1111/1753-0407.12446
3. Shields BM, Hicks S, Shepherd MH et al (2010) Maturity-onset diabetes of the young (MODY): how many cases are we missing? Diabetologia 53:2504–2508. https://doi.org/10.1007/s00125-010-1799-4
4. Laver TW, Wakeling MN, Knox O et al (2022) Evaluation of evidence for pathogenicity demonstrates that BLK, KLF11, and PAX4 should not be included in diagnostic testing for MODY. Diabetes 71(5):1128–1136. https://doi.org/10.2337/db21-0844
5. Patel KA, Kettunen J, Laakso M et al (2017) Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance. Nat Commun 8(1):888
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