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Article

Targeted gene panel sequencing for molecular diagnosis of congenital adrenal hyperplasia.

The Journal of steroid biochemistry and molecular biology - 1 Jul 2021

Wang Wencui, Han Rulai, Yang Zuwei, Zheng Sichang, Li Haorong, Wan Zhihan, Qi Yan, Sun Shouyue, Ye Lei, Ning Guang

Abstract excerpt

CONTEXT: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive genetic diseases caused by genetic deficiency in nine genes encoding steroidogenesis enzymes and cofactors. OBJECTIVE: To establish a targeted next-generation sequencing (NGS) assay for all nine CAH candidate genes. METHODS: We developed a customized targeted NGS assay of CAH candidate genes (CYP21A2, CYP17A1, CYP11B1, StAR, CYP11A1,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33864926
DOI: 10.1016/j.jsbmb.2021.105899

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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