ArticleCurrent issues in molecular biology2024
Challenging Molecular Diagnosis of Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency: Case Series and Novel Variants of
Article in Current issues in molecular biology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- A Comprehensive Pipeline for the Use of Short Read Next-Generation Sequencing (SR-NGS) inCurrent issues in molecular biology · 2026Article
- Case Report: unmasking pseudo-homozygosity inFrontiers in endocrinology · 2026Article
- Case Report: Compound heterozygous mutation comprising p.Pro31Leu and exons 1-3 ins/del variants inFrontiers in pediatrics · 2026Article
- Genomic signatures of selection in drug metabolizing genes across cattle populations.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- Genetics in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and Clinical Implications.Journal of the Endocrine Society · 2025Review
- Severe Clinical Manifestation of a Salt Wasting Form of Congenital Adrenal Hyperplasia Harboring a Complex Genotype.Case reports in endocrinology · 2025Article
- CYP21A2 Intron 2 Genetic Variants Might Be Associated with the Clinical Characteristics of Women with PCOS.Biomedicines · 2024Article
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Abstract
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive genetic defects in cortisol synthesis and shows elevated ACTH concentrations, which in turn has downstream effects. The most common variant of CAH, 21-hydroxylase deficiency (21OHD), is the result of pathogenic variants in the
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