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Updated: May 26, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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COL12A1基因的新型变异导致新生儿低血压和呼吸衰竭

Huizhi Huang1, Luyao Deng1, Yu Zhang1

  • 1Department of Neonatology, Anhui Medical University Children's Medical Center/Anhui Provincial Children's Hospital, Hefei, 230022, Anhui, China.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|February 22, 2025
PubMed
概括

这项研究详细介绍了一例罕见的新生儿原XII缺乏症 (COL12A1) 病例,该病例表现为严重的低血压和呼吸衰竭. 发现了一种新的COL12A1变体,扩大了这种遗传神经肌肉疾病的已知谱.

关键词:
伯利恒神经病变症 伯利恒神经病变症在 COL12A1 中,出生性肌肉病变是一种先天性肌肉病变.呼吸系统衰竭 呼吸系统衰竭

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