Associated Papers
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
Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants.
Jiali C et al.
Frontiers in Genetics, 2024
Side-chain cleavage enzyme deficiency: Systematic review and case series.
Phadte A et al.
Clinical Endocrinology, 2023
A Novel Homozygous Mutation in CYP11A1 Gene is Associated with Severe Adrenal Insufficiency in 46, XX Patient.
Kara O et al.
Fetal and Pediatric Pathology, 2021
Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD).
Hughes LA et al.
Endocrine Connections, 2019
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