自体递归的ALOX12B基因和连续的共婴儿
Krishma Thakur1, Alka Sehgal2, Bharti Goel2
1Obstetrics and Gynecology, GMCH, Chandigarh, India thakur.krishma72@gmail.com.
BMJ case reports
|March 21, 2024
概括
自体逆性先天性 Ichthyosis 是一种罕见的遗传性皮肤疾病,由缺陷的角质化造成. 这一案例突出显示了R型阿拉基多12-氧酶基因 (ALOX12B) 的突变.
科学领域:
- 遗传学 是一个遗传学.
- 皮肤病学 皮肤病学
- 生物化学 生化学
背景情况:
- 自体递归先天性缺血症 (ARCI) 是一种罕见的遗传性疾病,其特征是缺陷的角质化.
- 叶片性 Ichthyosis 和先天性 ichthyosiform erythroderma 的患病率大约是每20万到30万个个体中的1个.
- 遗传突变,特别是错误感和框架转移类型,占ARCI病例的80%.
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