Incomplete penetrance and variable expressivity in monogenic diabetes; a challenge but also an opportunity
Author:
Funder
Nature Science Foundation of Guangdong Province, China
Postdoctoral Research Foundation of China
Publisher
Springer Science and Business Media LLC
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Link
https://link.springer.com/content/pdf/10.1007/s11154-023-09809-1.pdf
Reference86 articles.
1. Zhang H, et al. Monogenic diabetes: a gateway to precision medicine in diabetes. J Clin Invest. 2021;131(3). https://doi.org/10.1172/JCI142244.
2. Shi D, et al. Genetic syndromes with diabetes: a systematic review. Obes Rev. 2021;22(9). https://doi.org/10.1111/obr.13303. e13303.
3. Sousa M, Rego T, Armas JB. Insights into the Genetics and Signaling Pathways in Maturity-Onset diabetes of the Young. Int J Mol Sci. 2022;23(21). https://doi.org/10.3390/ijms232112910.
4. Lemelman MB, Letourneau L, Greeley SAW. Neonatal diabetes Mellitus: an update on diagnosis and management. Clin Perinatol. 2018;45(1):41–59. https://doi.org/10.1016/j.clp.2017.10.006.
5. Yan J, et al. Whole-exome sequencing identifies a novel INS mutation causative of maturity-onset diabetes of the young 10. J Mol Cell Biol. 2017;9(5):376–83. https://doi.org/10.1093/jmcb/mjx039.
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