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Updated: Jun 28, 2025

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约翰逊-暴风雪综合症:来自巴林的病例报告与文学评论

Hasan M Isa^1,2, Zainab A Khudhair², Kawthar M Abdulla²

¹Department of Pediatrics, Arabian Gulf University, Manama, BHR.

|April 12, 2024

概括

约翰逊-暴风雨综合征 (JBS) 是一种罕见的遗传疾病,由UBR1基因突变引起. 早期诊断和多学科护理对于管理其复杂症状至关重要.

科学领域:

遗传学遗传学是一个
儿科儿科儿科
内分泌学在内分泌学.

背景情况:

约翰逊 - 暴风雨综合征 (JBS) 是一种罕见的自体相衰退性疾病.
它是由无素蛋白联酶E3成分n-recognin 1 (UBR1) 基因的突变引起的.
结合性甲状腺综合症表现出一套独特的临床特征,包括低塑性alae nasi,头皮缺陷,听力损失,甲状腺功能低下和发育迟缓.

关键词:

切割的是一种无形性.外分胰腺炎胰腺功能不充分低塑性阿莱纳西 (alae nasi) 是一种低塑性物质.约翰逊 - 暴风雨综合征感觉神经耳聋感觉神经耳聋

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