整个基因组测序是否在特异性声不运动中起作用?
Michelle M Florentine1, Kastley Marvin2, Matthew T Brigger3
1Department of Otolaryngology-Head and Neck Surgery, University of California- San Francisco, San Francisco, CA, USA.
International journal of pediatric otorhinolaryngology
|July 18, 2025
概括
遗传疾病是儿科双侧声不运动 (BVFI) 的未被确诊的原因. 整个基因组测序对于诊断BVFI,改变管理,并可能改善受影响儿童的结果至关重要.
科学领域:
- 遗传学 遗传学 是一个
- 儿科耳鼻喉科 儿科耳鼻喉科
- 医学诊断 医学诊断 医学诊断
背景情况:
- 儿科双侧声不运动 (BVFI) 往往是先天性和异常性,造成呼吸损害的重大风险.
- 确定BVFI的精确病因对于有效的临床管理和预防死亡率等严重结果至关重要.
- 遗传性疾病越来越多地被认为是潜在的,但尚未被诊断出来的异常BVFI的原因.
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