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  • Title: Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation.
    Author: Coutance G, Labombarda F, Cauderlier E, Belin A, Richard P, Bonne G, Chapon F.
    Journal: Congenit Heart Dis; 2013; 8(4):E127-9. PubMed ID: 22883396.
    Abstract:
    Hypoplasia of the aorta is a rare entity comprising tubular hypotrophy of a large segment of the thoracic and the abdominal aorta. We report for the first time the case of a 26-year-old man with Emery-Dreifuss muscular dystrophy presenting severe and diffuse hypoplasia of the aorta.
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