Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm

Jelsig, AM; Urban, Z; Hucthagowder, V; Nissen, H; Ousager, LB

Jelsig, AM (reprint author), Odense Univ Hosp, Dept Clin Genet, Sdr Blvd 29, DK-5000 Odense C, Denmark.

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2017; 60 (2): 110

Abstract

Pathogenic germline mutations in ELN can be detected in patients with supravalvular aortic stenosis. The mutation might occur de novo or be inherited ......

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