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

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  1. 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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