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

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

Abstract 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...

Full description

Bibliographic Details
Main Authors: Shalini S. Nayak, Pauline E. Schneeberger, Siddaramappa J. Patil, Karegowda M. Arun, Pujar V. Suresh, Viralam S. Kiran, Sateesh Siddaiah, Shreesha Maiya, Shrikanth K. Venkatachalagupta, Neethukrishna Kausthubham, Fanny Kortüm, Isabella Rau, Alexandra Wey-Fabrizius, Lotte Van Den Heuvel, Josephina Meester, Lut Van Laer, Anju Shukla, Bart Loeys, Katta M. Girisha, Kerstin Kutsche
Format: Article
Language:English
Published: Nature Publishing Group 2021-01-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-020-80755-7

Internet

https://doi.org/10.1038/s41598-020-80755-7

Similar Items