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Updated: Jun 7, 2025

10:02
State of the Art Cranial Ultrasound Imaging in Neonates
Published on: February 2, 2015
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案例报告: 一名男性新生儿患有尾角综合征
Marian K H Georgeos1, Engy M Hanna2
1NICU Specialist, MRCPCH, MSc, Neonatal Intensive Care Unit, Arab Contractors Medical Center, Nasr City, Cairo Governorate, Egypt.
F1000Research
|November 15, 2024
概括
尾部角综合征 (OHS) 是一种罕见的遗传铜运输障碍. 新生儿的早期诊断对于管理这种影响连接组织的渐进性疾病至关重要.
科学领域:
- 遗传学 是一个遗传学.
- 生物化学 生物化学
- 儿科 儿科 儿科
背景情况:
- 尾角综合征 (OHS) 是一种罕见的遗传疾病.
- 它是由ATP7A基因的突变引起的,影响铜运输.
- OHS通常会出现多系统性问题,主要影响肌肉骨和结缔组织.
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