[由MARS1基因突变引起的间歇性肺和肝病例]
Wen-Jing Peng1, Yan Zhu1, Lai-Shuan Wang1
1National Children's Medical Center/Department of Neonatology, Children's Hospital of Fudan University, Shanghai 201102, China.
概括
一种罕见的遗传疾病,MARS1基因突变,在婴儿中引起了间歇性肺和肝病. 早期诊断和多学科治疗对于这种严重的疾病至关重要.
科学领域:
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
- 罕见疾病 罕见疾病
背景情况:
- 间歇性肺部和肝脏疾病 (ILLD) 是一种严重的,罕见的疾病,通常在婴儿或幼儿时期表现出来.
- 它是以自身遗传的递归方式遗传的,其特点是早期出现的呼吸不全和肝脏疾病.
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