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Article

Diagnosing CAH-X syndrome by long-read sequencing and identifying a novel genotype.

Orphanet journal of rare diseases - 22 Apr 2026

Li Zhen, Xu Shiyi, Fu Qingxian, Du Lingling, Lin Qiuting, Lin Hongjie, E Huishu, Liu Hui

Abstract excerpt

BACKGROUND: To conduct long-read sequencing (LRS) testing for molecular diagnosis of CAH-X syndrome. This study collected clinical data and evaluated the phenotypes of Ehlers-Danlos syndrome (EDS) in 20 cases of 21-hydroxylase deficiency (21-OHD) children and performed genetic diagnosis for CAH-X syndrome by LRS. RESULTS: Two of the 20 cases of pediatric patients with 21-OHD were ultimately diagnosed with CAH-X...

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Topics

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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

Open in PubMed Open full text

Identifiers

PMID: 42021388
DOI: 10.1186/s13023-026-04356-9
PMCID: PMC13277045

Genes

CYP21A2
TNXB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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