Associated Papers
High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands.
Wang Y et al.
Human Genomics, 2025
39810276 (PubMed )
Supplement: 40246_2024_696_MOESM1_ESM.xlsx › Table_S3-Genotypes
Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation.
Toraman B et al.
Gene, 2013
A simple and robust quantitative PCR assay to determine CYP21A2 gene dose in the diagnosis of 21-hydroxylase deficiency.
Parajes S et al.
Clinical Chemistry, 2007
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