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Alström syndrome is an autosomal recessive disease with multisystem involvement, including cone-rod dystrophy, hearing loss, type 2 diabetes, insulin resistance with hyperinsulinemia, dilated cardiomyopathy, and progressive hepatic and renal failure.

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Ciliopathy: Alström Syndrome

  • 章节

  • 发表日期：

    2025年

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  • Stephen H. Tsang,
  • Alicia R. P. Aycinena,
  • Tarun Sharma

摘要

Alström syndrome is an autosomal recessive disease with multisystem involvement, including cone-rod dystrophy, hearing loss, type 2 diabetes, insulin resistance with hyperinsulinemia, dilated cardiomyopathy, and progressive hepatic and renal failure.