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Article

Genotype and clinical phenotype of children with Marfan syndrome in Southeastern Anatolia.

European journal of pediatrics - 1 Aug 2024

Karaoglan Murat, Nacarkahya Gulper, Aytac Emel Hatun, Keskin Mehmet

Abstract excerpt

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...

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PMID: 38700693
DOI: 10.1007/s00431-024-05579-3
PMCID: PMC11263224

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