Article

Genotype–Phenotype Correlation and Mutational Burden in Colombian Patients with Congenital Adrenal Hyperplasia

2025-09-18

Abstract excerpt

<h4>Background</h4> Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is characterized by a broad clinical spectrum, ranging from salt-wasting to nonclassical forms. Genotype–phenotype correlations based on predicted residual enzymatic activity have been widely studied, but data from Latin American populations remain scarce. Additionally, the influence of mutational burden on phenotype...

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Literature Corpus work: 3d94443d-89fb-5a11-b6cc-5e14c0f18969
DOI: 10.1101/2025.09.15.25335820

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