在一个年轻男孩身上,库伦-德弗里斯综合征的罕见 fundus 呈现
Hamad Alomairah1, Abdullah Ali1, Rabeah Altemaimi2
1Al Bahar Eye Center, Ibn Sina Hospital, Kuwait.
Ophthalmic genetics
|August 2, 2023
概括
科林-德弗里斯综合征 (KDVS) 涉及一个17q21.31微切除. 这个案例突出了新的眼睛发现,包括虹膜和视网膜色素表皮的低颜色化,扩大了综合征.
科学领域:
- 遗传学和眼科 医学
- 罕见的遗传疾病 罕见的遗传疾病
- 临床案例研究研究.
背景情况:
- 科林-德弗里斯综合征 (KDVS) 是一种罕见的遗传疾病,与17q21.31微删除有关.
- KDVS通常表现为智力障碍,特有的面部特征以及潜在的心脏,脏和眼科问题.
- KANSL1基因是参与17q21.31区域删除的基因之一.
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