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  1. Article

    Open Access

    Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing

    Marfan syndrome and related disorders are a group of heritable connective tissue disorders and share many clinical features that involve cardiovascular, skeletal, craniofacial, ocular, and cutaneous abnormalit...

    Shalini S. Nayak, Pauline E. Schneeberger, Siddaramappa J. Patil in Scientific Reports (2021)