共 50 条
- [1] Partial Defect in the Cholesterol Side-Chain Cleavage Enzyme P450scc (CYP11A1) Resembling Nonclassic Congenital Lipoid Adrenal Hyperplasia JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2011, 96 (03): : 792 - 798
- [2] Heterozygous mutation in the cholesterol side chain cleavage enzyme (P450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2001, 86 (08): : 3820 - 3825
- [3] Varied Clinical Presentations of Seven Patients With Mutations in CYP11A1 Encoding the Cholesterol Side-Chain Cleavage Enzyme, P450scc JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2013, 98 (02): : 713 - 720
- [4] Clinical case seminar - Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2006, 91 (08): : 2821 - 2826
- [5] Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2005, 90 (01): : 538 - 541
- [9] Varied Clinical Presentations of Seven Patients With Mutations in CYP11A1 Encoding the Cholesterol Side-Chain Cleavage Enzyme, P450scc (vol 98, pg 713, 2013) JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2013, 98 (10): : 4213 - 4213