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Updated: Jun 11, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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同一个变体内的阿尔斯特罗姆综合征范围内的临床变异性:病例报告和文献综述

Diana Jecan-Toader1,2, Adrian Trifa3,4,5, Bogdan Lucian6

  • 1Medical Oncology Discipline, Department of Oncology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.

Frontiers in pediatrics
|October 10, 2024
PubMed
概括

阿尔斯特罗姆综合征是一种罕见的遗传性疾病,即使具有相同的ALMS1基因变异,也会呈现出各种症状. 这表明,除了特定突变之外,其他因素也会影响疾病的表现.

关键词:
阿尔斯特罗姆综合征是什么意思圆杆缩症是一种状缩症.扩张性心肌病症 扩张性心肌病症基因型-表型相关性相关性肥胖 肥胖 肥胖 肥胖 肥胖 肥胖 肥胖 肥胖

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