Article
Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.
Scientific reports - 12 Jan 2021
Nayak Shalini S, Schneeberger Pauline E, Patil Siddaramappa J, Arun Karegowda M, Suresh Pujar V, Kiran Viralam S, Siddaiah Sateesh, Maiya Shreesha, Venkatachalagupta Shrikanth K, Kausthubham Neethukrishna, Kortüm Fanny, Rau Isabella, Wey-Fabrizius Alexandra, Van Den Heuvel Lotte, Meester Josephina, Van Laer Lut, Shukla Anju, Loeys Bart, Girisha Katta M, Kutsche Kerstin
Abstract excerpt
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 abnormalities. The majority of affected individuals have aortopathies associated with early mortality and morbidity. Implementation of targeted gene panel next-generation sequencing in these individuals is a powerful...
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