title: Extensive arterial tortuosity and severe aortic dilation in a newborn with an EFEMP2 mutation.
authors.affiliation: Genetica Molecolare, USSD Laboratorio di Genetica Medica, Ospedali Riuniti, Largo Barozzi, 1, 24128 Bergamo, Italy. miascone@ospedaliriuniti.bergamo.it
authors.forename: Maria
authors.initials: M
authors.lastname: Iascone
authors.forename: Maria Elena
authors.initials: ME
authors.lastname: Sana
authors.forename: Laura
authors.initials: L
authors.lastname: Pezzoli
authors.forename: Paolo
authors.initials: P
authors.lastname: Bianchi
authors.forename: Daniela
authors.initials: D
authors.lastname: Marchetti
authors.forename: Giorgio
authors.initials: G
authors.lastname: Fasolini
authors.forename: Youcef
authors.initials: Y
authors.lastname: Sadou
authors.forename: Anna
authors.initials: A
authors.lastname: Locatelli
authors.forename: Flavia
authors.initials: F
authors.lastname: Fabiani
authors.forename: Giovanna
authors.initials: G
authors.lastname: Mangili
authors.forename: Paolo
authors.initials: P
authors.lastname: Ferrazzi
mesh_terms: D001158:Arteries / Q000002:abnormalities; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007593:Joint Instability / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D012720:Severity of Illness Index; D012873:Skin Diseases, Genetic / Q000175:diagnosis* / Q000235:genetics*; D054079:Vascular Malformations / Q000175:diagnosis* / Q000235:genetics*
chemical_list: C403672:EFEMP2 protein, human; D016326:Extracellular Matrix Proteins