ArticleFrontiers in pediatrics2025
Long-read sequencing transforms the diagnosis of congenital adrenal hyperplasia: resolving pseudogene interference and structural variations.
Article in Frontiers in pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques.Frontiers in endocrinology · 2026Review
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7 authors.
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Abstract
Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder primarily caused by defects in adrenal steroidogenesis. Conventional genetic methods struggle to resolve complex structural variations and pseudogene interference in key genes like Methods: Four probands with clinically diagnosed CAH underwent detailed biochemical profiling, including serum 17-hydroxyprogesterone, serum sodium and serum potassium. Genomic DNA was extracted from peripheral blood and subjected to LRS using Single-Molecule Real-Time (SMRT) Technologies (Pacifc Biosciences). A targeted panel covering the Results: LRS identified compound heterozygous and homozygous variants in Conclusion: LRS is a robust diagnostic tool for CAH, offering comprehensive detection of genetic variants, including large deletions and SNVs in both
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