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Article

Advocating Targeted Sequential Screening over Whole Exome Sequencing in 21-Hydroxylase Deficiency.

Indian journal of pediatrics - 1 Oct 2025

Ravichandran Lavanya, Paul Shriti, Rekha A, Varghese Deny, Parthiban R, Asha H S, Mathai Sarah, Simon Anna, Danda Sumita, Thomas Nihal, Chapla Aaron

Abstract excerpt

OBJECTIVES: Whole exome sequencing (WES) has emerged as the preferred method for diagnosing a range of Mendelian disorders. Nonetheless, the applicability of WES in genetic diagnosis of 21-hydroxylase deficiency (21-OHD) remains uncertain due to the intricacies involved in molecular analysis of the CYP21A2 gene. METHODS: In this case series, authors report the outcomes of couples or families who underwent WES...

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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 Steroid 21-Hydroxylase

Source

Identifiers

PMID: 39302536
DOI: 10.1007/s12098-024-05249-0

Genes

CYP21A2

Provenance

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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