Publication | Open Access

Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study

Marfan SyndromeMendelian DisorderGenetic DisorderMedicineGeneticsGenetic EpidemiologyMutation TypePathologyMolecular GeneticsDisease Gene IdentificationPublic HealthMonogenic DisordersInternational StudyClinical Genetics