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20 novel point mutations and one large deletion in EXT1 and EXT2 genes: Report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis

Genetic DisorderMedicineGeneticsPathologyHereditary Multiple ExostosisMolecular GeneticsDisease Gene IdentificationMolecular DiagnosticsDiagnostic ScreeningLarge DeletionClinical Genetics