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

Autor: Nayak SS; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Schneeberger PE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany., Patil SJ; Narayana Hrudayalaya Hospitals/Mazumdar-Shaw Medical Center, Bangalore, India., Arun KM; Narayana Hrudayalaya Hospitals/Mazumdar-Shaw Medical Center, Bangalore, India., Suresh PV; Narayana Hrudayalaya Hospitals/Mazumdar-Shaw Medical Center, Bangalore, India., Kiran VS; Narayana Hrudayalaya Hospitals/Mazumdar-Shaw Medical Center, Bangalore, India., Siddaiah S; Narayana Hrudayalaya Hospitals/Mazumdar-Shaw Medical Center, Bangalore, India., Maiya S; Narayana Hrudayalaya Hospitals/Mazumdar-Shaw Medical Center, Bangalore, India., Venkatachalagupta SK; Narayana Hrudayalaya Hospitals/Mazumdar-Shaw Medical Center, Bangalore, India., Kausthubham N; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany., Rau I; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany., Wey-Fabrizius A; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany., Van Den Heuvel L; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Meester J; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Van Laer L; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Loeys B; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India. girish.katta@manipal.edu., Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany. kkutsche@uke.de.

Publikováno v: Scientific reports [Sci Rep] 2021 Jan 12; Vol. 11 (1), pp. 764. Date of Electronic Publication: 2021 Jan 12.