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

Bingyan Cao,Meijuan Liu,Yingxian Zhang,Jiajia Chen,Xiaoqiao Li,Chang Su,Wei Yang,Min Liu,Di Wu,Wenjing Li,Xuejun Liang,Qiao Wang,Haiyan Wei,Chunxiu Gong

American journal of physiology. Endocrinology and metabolism（2022）

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摘要

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.

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关键词

children,frequency,maturity-onset diabetes of the young,screening

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