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Article

Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia.

Indian journal of pediatrics - 1 Feb 2024

Saraf Shaily, Srivastava Priyanka, Panigrahi Inusha, Seenappa Venu, Kumar Rakesh, Yadav Jaivinder, Daniel Roshan, Dayal Devi

Abstract excerpt

OBJECTIVE: To characterize the CYP21A2 gene mutations in children with classic congenital adrenal hyperplasia (CAH). METHODS: A prospective, cross-sectional study was conducted on 24 children with classic CAH. Molecular characterization of the CYP21A2 gene was carried out by Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA), or clinical exome sequencing. Another 21 previously...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 35094236
DOI: 10.1007/s12098-021-03975-3

Genes

CYP21A2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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