Genetic testing for Marfan-like disorders

Genetic testing for Marfan-like disorders

Marfan-like disorders are inherited conditions with features resembling Marfan syndrome but without a pathogenic variant in FBN1, and/or without a clinical diagnosis of Marfan syndrome according to the Revised Ghent criteria, and/or with a pathogenic variant in a different disease gene. Marfan-like...

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Bibliographic Details
Main Authors: Rakhmanov Yeltay, Maltese Paolo Enrico, Paolacci Stefano, Marinelli Carla, Castori Marco, Beccari Tommaso, Dundar Munis, Bertelli Matteo
Format: Article
Language:English
Published: Sciendo 2018-09-01
Series:The EuroBiotech Journal
Subjects:
marfan-like syndromes
loeys-dietz syndromes
familial thoracic aortic aneurism
cutis laxa syndromes
bicuspid aortic valve disease
arterial tortuosity syndrome
ebtna utility gene test
Online Access:https://doi.org/10.2478/ebtj-2018-0033

Internet

https://doi.org/10.2478/ebtj-2018-0033

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