Associated Papers
Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data.
Acosta Bedón A et al.
American Journal of Medical Genetics. Part A, 2025
Primary Adrenal Insufficiency, Complete Sex Reversal, and Unique Clinical Phenotype in a Patient with Severe CYP11A1 (P450scc) Deficiency-Case Report and Literature Overview.
Nowak Z et al.
Children (basel, Switzerland), 2024
A CYP11A1 homozygous exonic variant inducing an alternative splicing, frameshift and truncation in a family with congenital adrenal hyperplasia.
Alhamoudi KM et al.
Heliyon, 2024
39157388 (PubMed )
Supplement: mmc1.docx
Side-chain cleavage enzyme deficiency: Systematic review and case series.
Phadte A et al.
Clinical Endocrinology, 2023
Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.
Maharaj A et al.
Journal of the Endocrine Society, 2019
30620006 (PubMed )
Supplement: js.2018-00130.st1.docx
Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc.
Tee MK et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
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