INSR novel mutations identified in a Chinese family with severe INSR-related insulin resistance syndromes: A case report.

Lu Yu,Fang Yu,Zongrui Ma,Huilin Lu, Jian Luo,Ting Sun, Qin Liu,Shenglian Gan

Medicine（2022）

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摘要

In children who are not obese but with severe insulin resistance, growth retardation, hirsutism, and hyperglycemia, genetic testing should be performed for early diagnosis, active treatment, and follow-up.

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关键词

Donohue syndrome (DS), insulin receptor gene, insulin resistance, Rabson-Mendenhall syndrome (RMS)

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