Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome
Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome
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Publisher
England: BMJ Publishing Group LTD
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Language
English
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Publisher
England: BMJ Publishing Group LTD
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BackgroundThe molecular anomalies causing moyamoya disease (MMD) and moyamoya syndromes (MMS) are unknown in most patients.ObjectiveThis study aimed to identify de novo candidate copy number variants (CNVs) in patients with moyamoya.MethodsRare de novo CNVs screening was performed in 13 moyamoya angiopathy trios using whole exome sequencing (WES) r...
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Full title
Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome
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TN_cdi_proquest_miscellaneous_2336245813
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2336245813
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ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2019-106525
