Research graph
References from Familial 46,XY disorder of sex development due to a novel CYB5A variant: a rare cause of isolated 17,20-lyase deficiency. Local targets link to admitted publications; unresolved targets remain external evidence.
Congruency the ART of being real”—46XY DSD due to 5 α reductase deficiency—challenges in decision making
10.4103/ijem.ijem_179_21 · 2021 · External reference
Two families, two pathways: a case series of 46, XY DSD with 17α-hydroxylase deficiency and isolated 17,20-lyase deficiency due to novel CYB5A variant
10.1515/jpem-2024-0613 · 2025 · External reference
Isolated 17,20-lyase deficiency in a CYB5A mutated female with normal sexual development and fertility
10.1210/jendso/bvz016 · 2019 · External reference
A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency
10.1210/jc.2011-2413 · 2012 · External reference
Diagnostic approach in 46, XY DSD: an Endocrine Society of Bengal (ESB) consensus statement
10.1515/jpem-2022-0515 · 2022 · External reference
Isolated 17,20-lyase deficiency due to the cytochrome b5 mutation W27X
10.1210/jc.2008-1745 · 2010 · External reference
Rare phenotypic spectrum of 17β-hydroxysteroid dehydrogenase 3 deficiency: case series from infancy to adolescence
10.1515/jpem-2025-0549 · 2026 · External reference
46,XY 17 alpha-hydroxylase/17,20 lyase deficiency with breast development: a case report and literature review
10.1507/endocrj.ej24-0715 · 2025 · External reference
Congenital methemoglobinemia with cytochrome b5 deficiency
10.1056/nejm198610023151415 · 1986 · External reference
Methemoglobinemia: what the anaesthetist must know
10.4103/0019-5049.118525 · 2013 · External reference
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
10.1159/000512372 · 2020 · External reference
