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
39157388 (PubMed )
Supplement: mmc1.docx
Novel SCC mutation in a patient of Mexican descent with sex reversal, salt-losing crisis and adrenal failure.
Kaur J et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2016
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