CHD7 疾病 - - 不负责任的综合征 - - 呈现为孤立的耳静脉功能障碍
Jef Driesen1, Helen Van Hoecke1, Leen Maes2
1Department of Head and Skin, Faculty of Medicine and Health Sciences, Ghent University Hospital, 9000 Ghent, Belgium.
Genes
|May 25, 2024
概括
在CHD7基因的突变可以导致一系列症状超出CHARGE综合征. 这项研究强调了CHD7变体,主要表现为听觉支柱功能障碍,强调了更广泛的遗传检测.
科学领域:
- 遗传学 遗传学 是一个
- 耳鼻喉科 耳鼻喉科 耳鼻喉科
- 发展生物学 发展生物学
背景情况:
- 从历史上看,CHARGE综合征是由特定的临床特征定义的,并且与CHD7基因突变有关.
- 与CHD7相关的疾病的诊断谱已经扩展到超出CHARGE综合征.
- 越来越多的CHD7变体被识别为具有孤立特征的个体,如自闭症或荷尔蒙缺乏症.
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