Associated Papers
Isolated 17,20-Lyase Deficiency in a CYB5A Mutated Female With Normal Sexual Development and Fertility.
Leung MT et al.
Journal of the Endocrine Society, 2020
Isolated 17, 20 Lyase Deficiency Secondary to a Novel CYB5A Variant: Comparison of Steroid Metabolomic Findings with Published Cases Provides Diagnostic Guidelines and Greater Insight into Its Biological Role.
Shaunak M et al.
Hormone Research in Paediatrics, 2020
Impaired 17,20-Lyase Activity in Male Mice Lacking Cytochrome b5 in Leydig Cells.
Sondhi V et al.
Molecular Endocrinology (baltimore, Md.), 2016
A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency.
Idkowiak J et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
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