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Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype–phenotype correlations in FBN1 exons 24–40

Mendelian DisorderGenetic DisorderMedicineGeneticsPathogenesisInherited Metabolic DiseaseGenotype–phenotype CorrelationsPathologyMolecular GeneticsDisease Gene IdentificationNeonatal Marfan SyndromeFbn1 Exons 24–40Monogenic Disorders