Ontology highlight
ABSTRACT:
SUBMITTER: Nayak SS
PROVIDER: S-EPMC7804850 | biostudies-literature | 2021 Jan
REPOSITORIES: biostudies-literature
Nayak Shalini S SS Schneeberger Pauline E PE Patil Siddaramappa J SJ Arun Karegowda M KM Suresh Pujar V PV Kiran Viralam S VS Siddaiah Sateesh S Maiya Shreesha S Venkatachalagupta Shrikanth K SK Kausthubham Neethukrishna N Kortüm Fanny F Rau Isabella I Wey-Fabrizius Alexandra A Van Den Heuvel Lotte L Meester Josephina J Van Laer Lut L Shukla Anju A Loeys Bart B Girisha Katta M KM Kutsche Kerstin K
Scientific reports 20210112 1
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 tool to obtain a genetic diagnosis. Here, we report on clinical and genetic spectrum ...[more]