Atypical presentation of moyamoya disease in an infant with a de novoRNF213variant
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Title
Atypical presentation of moyamoya disease in an infant with a de novoRNF213variant
Authors
Keywords
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Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 167, Issue 11, Pages 2742-2747
Publisher
Wiley
Online
2015-07-21
DOI
10.1002/ajmg.a.37230
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Note: Only part of the references are listed.- Temporal profile of the vascular anatomy evaluated by 9.4-T magnetic resonance angiography and histopathological analysis in mice lacking RNF213: A susceptibility gene for moyamoya disease
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- Genetics and Biomarkers of Moyamoya Disease: Significance ofRNF213as a Susceptibility Gene
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- Identification of RNF213 as a Susceptibility Gene for Moyamoya Disease and Its Possible Role in Vascular Development
- (2011) Wanyang Liu et al. PLoS One
- A genome-wide association study identifies RNF213 as the first Moyamoya disease gene
- (2010) Fumiaki Kamada et al. JOURNAL OF HUMAN GENETICS
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- (2010) Stylianos E. Antonarakis et al. NATURE REVIEWS GENETICS
- Finding the missing heritability of complex diseases
- (2009) Teri A. Manolio et al. NATURE
- Moyamoya Disease and Moyamoya Syndrome
- (2009) R. Michael Scott et al. NEW ENGLAND JOURNAL OF MEDICINE
- Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease
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- Common variants at 30 loci contribute to polygenic dyslipidemia
- (2008) Sekar Kathiresan et al. NATURE GENETICS
- Novel epidemiological features of moyamoya disease
- (2007) T Baba et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
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