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Vici syndrome associated with unilateral lung hypoplasia and myopathy.

作者信息

Al-Owain Mohammed, Al-Hashem Amal, Al-Muhaizea Mohammed, Humaidan Hani, Al-Hindi Hindi, Al-Homoud Iftetah, Al-Mogarri Ibrahim

机构信息

Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

出版信息

Am J Med Genet A. 2010 Jul;152A(7):1849-53. doi: 10.1002/ajmg.a.33421.

DOI:10.1002/ajmg.a.33421
PMID:20583151
Abstract
摘要

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Clinical Presentation and Molecular Characterization of 3 Patients with Vici Syndrome: Two Novel Variants in the Gene.3例维西综合征患者的临床表现及分子特征：该基因中的两个新变异体
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The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
由于自噬缺陷导致的神经发育、神经肌肉和神经退行性疾病谱。
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Vici syndrome with pathogenic homozygous EPG5 gene mutation: A case report and literature review.伴有致病性纯合EPG5基因突变的维西综合征：一例报告及文献复习
Medicine (Baltimore). 2020 Oct 23;99(43):e22302. doi: 10.1097/MD.0000000000022302.
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A Saudi Infant with Vici Syndrome: Case Report and Literature Review.一名患有维西综合征的沙特婴儿：病例报告及文献综述。
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