Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Using Next Generation Sequencing

    Nurgül Ataş, Murat Karaoğlan, Gülper Nacarkahya
    Studysummary This study found that among children with 21-hydroxylase deficiency, there is a strong correlation between severe genetic variants and clinical outcomes, but the correlation weakens with milder variants, indicating the limitations of relying solely on NGS for diagnosis.
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