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
Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.
Slavotinek AM et al.
Hgg Advances, 2024
38521975 (PubMed )
Supplement: mmc2.xlsx › Supplementary_table_2
First case report of rare congenital adrenal insufficiency caused by mutations in the CYP11A1 gene in the Czech Republic.
Pomahačová R et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2016
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