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New, recurrent, and prevalent mutations: Clinical and molecular characterization of 26 Chinese patients with 17alpha-hydroxylase/17,20-lyase deficiency

Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseasePathogenesis17Alpha-hydroxylase/17,20-lyase DeficiencyPathologyMolecular GeneticsDisease Gene IdentificationGenomicsMedicinePrevalent MutationsVariant InterpretationChinese Patients