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    Article

    ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm

    Bicuspid aortic valve (BAV) is a common congenital heart defect (population incidence, 1–2%)1–3 that frequently presents with ascending aortic aneurysm (AscAA)4. BAV/AscAA shows autosomal dominant inheritance wit...

    Russell A. Gould, Hamza Aziz, Courtney E. Woods… in Nature Genetics (2019)

  2. Article

    Open Access

    FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature

    Mutations in the X-linked gene filamin A (FLNA), encoding the actin-binding protein FLNA, cause a wide spectrum of connective tissue, skeletal, cardiovascular and/or gastrointestinal manifestations. Males are typ...

    Elyssa Cannaerts, Anju Shukla, Mensuda Hasanhodzic, Maaike Alaerts… in BMC Medical Genetics (2018)

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