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关于·希佩尔-林多病监测的最新情况

Surya P Rednam1, Kerri D Becktell2, Anita Villani3

  • 1Division of Hematology/Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas.

Clinical cancer research : an official journal of the American Association for Cancer Research
|April 15, 2025
PubMed
概括

由于新的数据和治疗方法,需要更新疾病监测指南. 这一观点提供了当前的临床见解和精细的共识建议,用于儿童和青少年的VHL瘤查.

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Huntington Disease l: Introduction01:21

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Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...