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Article

An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants.

Journal of human genetics - 1 Jul 2021

Gezdirici Alper, Teralı Kerem, Gülec Elif Yılmaz, Bornaun Helen, Dogan Mustafa, Eröz Recep

Abstract excerpt

Marfan syndrome (MFS) is an autosomal dominant genetic condition that mainly affects connective tissue in many parts of the body. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems. The diagnosis of MFS relies on the revised Ghent criteria, outlined by international expert opinion to facilitate accurate recognition of this syndrome as well as to improve patient management and...

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PMID: 33483584
DOI: 10.1038/s10038-021-00899-w

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