Publication | Open Access

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation

Mutation-type AnalysisMendelian DisorderInternational SeriesGenetic DisorderMedicineGeneticsPathogenesisPathologyMolecular GeneticsDisease Gene IdentificationMolecular DiagnosticsVariant InterpretationClinical Genetics