Rare forms of monogenic diabetes in non-European individuals. First reports of CEL and RFX6 mutations from the Indian subcontinent-Reference-Cited by-同舟云学术

Rare forms of monogenic diabetes in non-European individuals. First reports of CEL and RFX6 mutations from the Indian subcontinent

Published:2024-08-27 Issue: Volume: Page:
ISSN:1432-5233
Container-title:Acta Diabetologica
language:en
Short-container-title:Acta Diabetol

Author:

Marucci Antonella^ORCID,Menzaghi Claudia^ORCID,Dodesini Alessandro Roberto^ORCID,Albizzi Mascia^ORCID,Acquafredda Angelo^ORCID,Fini Grazia^ORCID,Trischitta Vincenzo^ORCID,Paola Rosa Di^ORCID

Funder

Ministero della Salute

Ministero dell’Istruzione, dell’Università e della Ricerca

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s00592-024-02357-3.pdf

Reference35 articles.

1. Bonnefond A, Unnikrishnan R, Doria A, Vaxillaire M, Kulkarni RN, Mohan V et al (2023) Monogenic diabetes. Nat Rev Dis Primers 9(1):12. https://doi.org/10.1038/s41572-023-00421-w

2. Hattersley AT, Greeley SAW, Polak M, Rubio-Cabezas O, Njølstad PR, Mlynarski W et al (2018) ISPAD Clinical Practice Consensus guidelines 2018: the diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes 19(Suppl 27):47–63. https://doi.org/10.1111/pedi.12772

3. American Diabetes Association (2020) Classification and diagnosis of diabetes. Diabetes Care 43(Suppl 1):S14–S31. https://doi.org/10.2337/dc20-S002

4. Akiba K, Ushijima K, Fukami M, Hasegawa Y (2020) A heterozygous protein-truncating RFX6 variant in a family with childhood-onset, pregnancy-associated and adult-onset diabetes. Diabet Med 37(10):1772–1776. https://doi.org/10.1111/dme.13970

5. Imaki S, Iizuka K, Horikawa Y, Yasuda M, Kubota S, Kato T et al (2021) A novel RFX6 heterozygous mutation (p.R652X) in maturity-onset diabetes mellitus: a case report. J Diabetes Investig 12(10):1914–1918. https://doi.org/10.1111/jdi.13545