Genotype and clinical phenotype of children with Marfan syndrome in Southeastern Anatolia
Murat Karaoglan,
Gulper Nacarkahya,
Emel Hatun Aytac
et al.
Abstract:The cardinal phenotypic hallmarks of Marfan syndrome (MFS) include cardiac, ocular, and skeletal abnormalities. Since the clinical phenotype of MFS is highly heterogeneous, with certain symptoms appearing as children age, the diagnostic process and establishing a genotype-phenotype association in childhood MFS can be challenging. The lack of sufficient childhood studies also makes it difficult to interpret the subject. This study aims to evaluate the relationship between clinical symptoms used as diagnostic cr… Show more
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