Associated Papers
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
Side-chain cleavage enzyme deficiency: Systematic review and case series.
Phadte A et al.
Clinical Endocrinology, 2023
A Novel Intronic Splice-Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development.
Matusik P et al.
International Journal of Environmental Research and Public Health, 2021
Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1.
Kim A et al.
Hormone Research in Paediatrics, 2018
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