Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related d...
Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing
About this item
Full title
Author / Creator
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. and Kutsche, Kerstin
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
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 pa...
Alternative Titles
Full title
Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_f21f727d6c214802940b31d4975ffaa6
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_f21f727d6c214802940b31d4975ffaa6
Other Identifiers
ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-020-80755-7
