Clinical variability in two Macedonian families with Arterial tortuosity syndrome by Kocova M, Kacarska R, Kuzevska-Maneva K, Prijic S, Lazareska M, Dordoni C, Ritelli M, Colombi M

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Absence of collagen flowers on electron microscopy and identification of (likely) pathogenic COL5A1 variants in two patients by Angwin, C, Brady, A, Colombi, M, Ferguson, D, Pollitt, R, Pope, F, Ritelli, M, Symoens, S, Ghali, N, Van Dijk, F