De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy
De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy
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Author / Creator
Guey, Stéphanie , Grangeon, Lou , Brunelle, Francis , Bergametti, Françoise , Amiel, Jeanne , Lyonnet, Stanislas , Delaforge, Audrey , Arnould, Minh , Desnous, Béatrice , Bellesme, Céline , Hervé, Dominique , Schwitalla, Jan C , Kraemer, Markus , Tournier-Lasserve, Elisabeth and Kossorotoff, Manoelle
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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BackgroundMoyamoya angiopathy (MMA) is characterised by a progressive stenosis of the terminal part of the internal carotid arteries and the development of abnormal collateral deep vessels. Its pathophysiology is unknown. MMA can be the sole manifestation of the disease (moyamoya disease) or be associated with various conditions (moyamoya syndrome)...
Alternative Titles
Full title
De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy
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Record Identifier
TN_cdi_proquest_miscellaneous_1881447138
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1881447138
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2016-104432
