伊玛川-松本综合症:土耳其首例病例
Zeliha Yücel1, Emine Berrin Yüksel2, Altuğ Koç3
1Karamanoglu Mehmetbey University Karaman Education and Research Hospital, Department of Neurology, Karaman, Turkey.
Noro psikiyatri arsivi
|September 11, 2024
概括
伊玛川-松本综合征 (IMMAS) 是一种罕见的遗传疾病. 这项研究详细介绍了一个新的病例,确定了与IMMAS相关的SUZ12基因中的新型缺失.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 罕见疾病 罕见疾病
背景情况:
- 伊玛川 - 松本综合征 (IMMAS) 是一种罕见的自体主导性疾病.
- 它的特点是过度生长,发育迟缓,智力障碍和明显的异形特征.
- 自2017年首次描述以来,仅报告了12起病例.
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