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Updated: Jul 4, 2025

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喉 - 阴道 - 皮肤综合征 (LOCS)
Fatima Hemani1, Uzma Khurram2, Anjum Naveed3
1Fatima Hemani Department of Pediatrics, Indus Hospital & Health Network, Karachi, Pakistan.
Pakistan journal of medical sciences
|February 8, 2024
概括
沙比尔综合征是一种罕见的遗传性疾病,影响皮肤和指甲,由于颗粒形成,可以导致危及生命的喉狭窄. 这份病例报告详细介绍了一名患有喉皮综合征 (LOCS) 的巴基斯坦男孩.
科学领域:
- 遗传学 是一个遗传学.
- 皮肤病学 皮肤病学
- 耳鼻喉科 耳鼻喉科 耳鼻喉科
背景情况:
- 喉皮综合征 (LOCS),也称为沙比尔综合征,是一种罕见的自体相衰退性疾病,由LAMA3基因突变引起.
- 它表现为表皮异常,包括眼睛,喉和指甲中的颗粒.
- 在OMIM下,LOCS现在被归类为结节性表皮溶解牛 (JEB) 的亚型.
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