Endocrine metabolism characteristics of Alström syndrome in 25 Chinese patients and identification of a new splice site in the ALMS1 gene

Abstract Background Alström syndrome is a serious monogenic rare disease with lacking systematic analyses of its endocrine and metabolic characteristics. Method Clinical data were obtained from Alström syndrome, and group comparison analyses were conducted. Whole exome sequencing was used for molecu...

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主要な著者:	Huifang Peng, Kailu Li, Bingjie Xue, Yuting Wu, Yu Guo, Xin Cheng, Liujun Fu, Hongwei Jiang
フォーマット:	Artigo
言語:	Inglês
出版事項:	BMC 2025-10-01
シリーズ:	Diabetology & Metabolic Syndrome
主題:	Alström syndrome ALMS1 mutation Obesity Insulin resistance Diabetes Hyperlipidaemia
オンライン･アクセス:	https://doi.org/10.1186/s13098-025-01955-7
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