Associated Papers
Genotype-Phenotype Correlations, Treatment, and Prognosis of Children With Early-Onset (Neonatal) Marfan Syndrome.
van der Leest EC et al.
Clinical Genetics, 2025
40065510 (PubMed )
Supplement: CGE-108-134-s001.xlsx › Supplemental_Table_5
Successful Mitral Valve Replacement in an Infant with Neonatal Marfan Syndrome due to a Novel Missense Mutation of the FBN1 Gene.
Motonaga T et al.
International Heart Journal, 2022
Next-generation sequencing panel analysis in 24 Chinese patients with congenital ectopia lentis.
Qi M et al.
International Ophthalmology, 2022
Combining clinical examination with exome sequencing for the diagnosis and treatment of Marfan syndrome: a case series of 6 families from China.
Duan Y et al.
Annals of Palliative Medicine, 2021
Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants.
Baudhuin LM et al.
Journal of Human Genetics, 2015
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