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- W4210471100 endingPage "129" @default.
- W4210471100 startingPage "111" @default.
- W4210471100 abstract "Monogenic diabetes, a form of diabetes mellitus, is caused by a mutation in a single gene and may account for 1-2% of all clinical forms of diabetes. To date, more than 40 loci have been associated with either isolated or syndromic monogenic diabetes.While the request of a genetic test is mandatory for cases with diabetes onset in the first 6 months of life, a decision may be difficult for childhood or adolescent diabetes. In an effort to assist the clinician in this task, we have grouped monogenic diabetes genes according to the age of onset (or incidental discovery) of hyperglycemia and described the additional clinical features found in syndromic diabetes. The therapeutic options available are reviewed.Technical improvements in DNA sequencing allow for rapid, simultaneous analysis of all genes involved in monogenic diabetes, progressively shrinking the area of unsolved cases. However, the complexity of the analysis of genetic data requires close cooperation between the geneticist and the diabetologist, who should play a proactive role by providing a detailed clinical phenotype that might match a specific disease gene." @default.
- W4210471100 created "2022-02-08" @default.
- W4210471100 creator A5004709217 @default.
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- W4210471100 creator A5032531176 @default.
- W4210471100 creator A5065235177 @default.
- W4210471100 creator A5074798655 @default.
- W4210471100 date "2022-03-01" @default.
- W4210471100 modified "2023-09-27" @default.
- W4210471100 title "The application of precision medicine in monogenic diabetes" @default.
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