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; Gülec, Elif Yılmaz; Bornaun, Helen; Dogan, Mustafa; Eröz, Recep (Journal of human genetics, 2021)
Keywords: Autosomal dominant inheritance; Bone diseases; Connective tissues; Diagnosis; Fibrillin; Gene deletion; Gene mapping; Genotype & phenotype; Genotypes; Marfan syndrome; Microfibrils; Minority & ethnic groups; Patients; Phenotypes