相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
Thomas Cullup et al.
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Vici syndrome-A rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy
Edith Said et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Immunodeficiency in Vici syndrome: A heterogeneous phenotype
Andrea Finocchi et al.
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Vici Syndrome Associated With Unilateral Lung Hypoplasia and Myopathy
Mohammed Al-Owain et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Vici Syndrome Associated With Sensorineural Hearing Loss and Evidence of Neuromuscular Involvement on Muscle Biopsy
Verity McClelland et al.
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Semi-Automated Unidirectional Sequence Analysis for Mutation Detection in a Clinical Diagnostic Setting
Sian Ellard et al.
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Sibling cases of Vici syndrome: Sleep abnormalities and complications of renal tubular acidosis
Rie Miyata et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Sister and brother with Vici syndrome: Agenesis of the corpus callosum, albinism, and recurrent infections
T Chiyonobu et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2002)