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  1. Article

    Open Access

    Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome

    Pathogenic loss-of-function variants in BGN, an X-linked gene encoding biglycan, are associated with Meester-Loeys syndrome (MRLS), a thoracic aortic aneurysm/dissection syndrome. Since the initial publication of...

    Josephina A. N. Meester, Anne Hebert, Maaike Bastiaansen… in npj Genomic Medicine (2024)

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  2. Article

    Open Access

    SMAD6-deficiency in human genetic disorders

    SMAD6 encodes an intracellular inhibitor of the bone morphogenetic protein (BMP) signalling pathway. Until now, SMAD6-deficiency has been associated with three distinctive human congenital conditions, i.e., conge...

    Ilse Luyckx, Aline Verstraeten, Marie-José Goumans, Bart Loeys in npj Genomic Medicine (2022)

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  3. No Access

    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)