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BMJ Publishing Group, Journal of Medical Genetics, 7(51), p. 436-443, 2014

DOI: 10.1136/jmedgenet-2013-102240

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ADAP2in heart development: a candidate gene for the occurrence of cardiovascular malformations in NF1 microdeletion syndrome

Journal article published in 2014 by Marco Venturin ORCID, Silvia Carra, Germano Gaudenzi, Silvia Brunelli, Guido Roberto Gallo, Silvia Moncini, Franco Cotelli, Paola Riva ORCID
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This paper is available in a repository.

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Abstract

Cardiovascular malformations have a higher incidence in patients with NF1 microdeletion syndrome compared to NF1 patients with intragenic mutation, presumably owing to haploinsufficiency of one or more genes included in the deletion interval and involved in heart development. In order to identify which genes could be responsible for cardiovascular malformations in the deleted patients, we carried out expression studies in mouse embryos and functional studies in zebrafish.