ORCID "0000 0004 7475 1800" için listeleme
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An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants
Gezdirici, Alper; Teralı, Kerem; Yılmaz Güleç, Elif; Bornaun, Helen; Doğan, Mustafa; Eröz, Recep (Springer, 2021)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 ...