Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Long-Read Sequencing Solves Complex Structure of CYP21A2 in a Large 21-Hydroxylase Deficiency Cohort.

The Journal of clinical endocrinology and metabolism - 21 Jan 2025

Wang Ruifang, Luo Xiaomei, Sun Yu, Liang Lili, Mao Aiping, Lu Deyun, Zhang Kaichuang, Yang Yi, Sun Yuning, Sun Manqing, Han Lianshu, Zhang Huiwen, Gu Xuefan, Qiu Wenjuan, Yu Yongguo

Abstract excerpt

CONTEXT: Genetic testing for 21-hydroxylase deficiency (21-OHD) is always challenging. The current approaches of short-read sequencing and multiplex ligation-dependent probe amplification (MLPA) are insufficient for the detection of chimeric genes or complicated variants from multiple copies. Recently developed long-read sequencing (LRS) can solve this problem. OBJECTIVE: To investigate the clinical utility of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adrenal Hyperplasia, Congenital
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Cohort Studies

Share to Genetic Testing

Share to Infant

Share to Steroid 21-Hydroxylase

Share to Young Adult

Source

Identifiers

PMID: 39049755
DOI: 10.1210/clinem/dgae519

Genes

CYP21A2
TNXB

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Long-Read Sequencing Solves Complex Structure of CYP21A2 in a Large 21-Hydroxylase Deficiency Cohort.PMID 39049755Read ↗

Improved Genetic Characterization of Congenital Adrenal Hyperplasia by Long-Read Sequencing Compared with Multiplex Ligation-Dependent Probe Amplification Plus Sanger Sequencing.Semantic proximity Read ↗

Long-read sequencing: An effective method for genetic analysis of CYP21A2 variation in congenital adrenal hyperplasia.Semantic proximity Read ↗

Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing.Semantic proximity Read ↗

HIGH PRECISION CHARACTERIZATION OF RCCX REARRANGEMENTS IN A 21-HYDROXYLASE DEFICIENCY LATIN AMERICAN COHORT USING OXFORD NANOPORE LONG READ SEQUENCINGSemantic proximity Read ↗

[Detection and characterization of the types of CYP21A1P/CYP21A2 and TNXA/TNXB fused genes by long-read sequencing among children with Steroid 21-hydroxylase deficiency].Semantic proximity Read ↗

Diagnosing CAH-X syndrome by long-read sequencing and identifying a novel genotype.Semantic proximity Read ↗

Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency.Semantic proximity Read ↗

Long-read Amplicon Sequencing of the CYP21A2 in 48 Thai Patients With Steroid 21-Hydroxylase Deficiency.Semantic proximity Read ↗

Molecular analysis of the CYP21A2 gene in Chinese patients with steroid 21-hydroxylase deficiency.Semantic proximity Read ↗

Molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency should include CAH-X chimerasSemantic proximity Read ↗

A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency.Semantic proximity Read ↗

Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase DeficiencySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.