Journal article

Diabetes mellitus and insulin resistance associated with Kabuki syndrome-A case report and literature review

Yotsapon Thewjitcharoen, Ekgaluck Wanothayaroj, Soontaree Nakasatien, Sirinate Krittiyawong, Ishant Khurana, Assam El-Osta, Thep Himathongkam

CLINICAL CASE REPORTS | WILEY | Published : 2022

Abstract

Kabuki syndrome (KS) is a genetic disorder characterized by distinctive facies, intellectual disability, and multi-organ anomalies. This case report highlights the importance of clinical recognizable phenotype in patients with diabetes. The development of diabetes should be considered an endocrine complication in KS patients.

University of Melbourne Researchers

Grants

Awarded by National Health and Medical Research Council (NHMRC)


Awarded by National Science Foundation of China (NSFC) 111 International Joint Program


Awarded by NHMRC


Awarded by National Health and Medical Research Council of Australia


Funding Acknowledgements

This work was supported by National Health and Medical Research Council (NHMRC, 1113188) and National Science Foundation of China (NSFC) 111 (81561128017) International Joint Program. Professor Assam El-Osta is a NHMRC Senior Research Fellow (1154650). The funder had no role in the study design, data collection and analysis