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Article

Allele-specific PCR and Next-generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India.

European journal of medical genetics - 1 Dec 2021

Ravichandran Lavanya, Korula Sophy, Asha H S, Varghese Deny, Parthiban R, Johnson Jabasteen, Ishwarya Janani, Shetty Sahana, Cherian Kripa Elizabeth, Jebasingh Felix, Kapoor Nitin, Pachat Divya, Mathai Sarah, Simon Anna, Rajaratnam Simon, Paul Thomas V, Thomas Nihal, Chapla Aaron

Abstract excerpt

Genetic screening of Congenital Adrenal Hyperplasia (CAH) is known to be challenging due to the complexities in CYP21A2 genotyping and has not been the first-tier diagnostic tool in routine clinical practice. Also, with the advent of massive parallel sequencing technology, there is a need for investigating its utility in screening extended panel of genes implicated in CAH. In this study, we have established and...

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Share to Adrenal Hyperplasia, Congenital
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to High-Throughput Nucleotide Sequencing

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Share to Polymerase Chain Reaction

Share to Steroid 21-Hydroxylase

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Identifiers

PMID: 34718183
DOI: 10.1016/j.ejmg.2021.104369

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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