An effective preselection criterion for MODY with an increasingly positive genetic testing rate by NGS: results from two cohorts of Chinese children-Reference-Cited by-同舟云学术

An effective preselection criterion for MODY with an increasingly positive genetic testing rate by NGS: results from two cohorts of Chinese children

Published:2022-12-01 Issue:6 Volume:323 Page:E529-E534
ISSN:0193-1849
Container-title:American Journal of Physiology-Endocrinology and Metabolism
language:en
Short-container-title:American Journal of Physiology-Endocrinology and Metabolism

Author:

Cao Bingyan¹,Liu Meijuan¹,Zhang Yingxian²,Chen Jiajia¹,Li Xiaoqiao¹,Su Chang¹,Yang Wei²,Liu Min¹,Wu Di¹,Li Wenjing¹,Liang Xuejun¹,Wang Qiao¹,Wei Haiyan²,Gong Chunxiu¹^ORCID

Affiliation:

1. Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

2. Department of Endocrinology, Genetics and Metabolism, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou, China

Abstract

We proved the clinical suspicion of maturity-onset diabetes of the young (MODY) according to the comprehensive criterion for next-generation sequencing testing, which helps to identify both common and rare MODYs, leading to accurate diagnosis and personalized treatment.

Funder

Beijing Municipal Administration of Hospitals Clinical Medicine Development of Special Funding Support

National Key Research and Development Program of China

Publisher

American Physiological Society

Subject

Physiology (medical),Physiology,Endocrinology, Diabetes and Metabolism

Link

https://journals.physiology.org/doi/pdf/10.1152/ajpendo.00171.2022

Reference30 articles.

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