Genetic Heterogeneity and Challenges in the Management of Permanent Neonatal Diabetes Mellitus: A Single-Centre Study from South India.

Sophy Korula,Lavanya Ravichandran,Praveen G Paul,Jabasteen Johnson,Aaron Chapla,Sridhar Santhanam,Anna Simon,Sarah Mathai

Indian journal of endocrinology and metabolism（2022）

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摘要

Our study demonstrates good clinical outcomes among NDM patients without immune dysfunction. Molecular diagnosis was attained only in around half of the patients (54%) with a great genetic heterogeneity.

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关键词

IPEX syndrome,Insulin,Monogenic diabetes,NDM,Neonatal diabetes,Wollcott-Rallison syndrome,diabetes management

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