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

[A follow-up study of 10 Uyghur children with 11β-hydroxylase deficiency in the Xinjiang region].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 15 Aug 2026

Wang Xiao-Yi, Luo Yan-Fei, Chen Yi-Ru, Wei Kai-Qi, Abulajiang A-Li-Ya, Maimaiti Mi-Re-Gu-Li

Abstract excerpt

OBJECTIVES: To study the clinical characteristics, treatment outcomes, and CYP11B1 gene mutation spectrum in Uyghur children with 11β-hydroxylase deficiency (11β-OHD) in Xinjiang, and to explore the ethnic-specific features of genotypes and clinical phenotypes. METHODS: Clinical, laboratory, genetic, and follow-up data of 10 Uyghur children diagnosed with 11β-OHD at the Department of Pediatrics of the First...

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 Delete account & data About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Follow-Up Studies

Share to Infant

Share to Mutation

Share to Steroid 11-beta-Hydroxylase

Source

Open in PubMed Open full text

Identifiers

PMID: 42608305
DOI: 10.7499/j.issn.1008-8830.2603068
PMCID: PMC13481349

Genes

CYP11B1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[A follow-up study of 10 Uyghur children with 11β-hydroxylase deficiency in the Xinjiang region].PMID 42608305Read ↗

[Clinical and genetic characteristics of 165 children with salt-wasting 21-hydroxylase deficiency in Henan Province].Semantic proximity Read ↗

Clinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11β-Hydroxylase Deficiency.Semantic proximity Read ↗

Presentation, Diagnosis, and Follow-Up Characteristics of 17α-Hydroxylase Deficiency Cases with Exon 1-6 Deletion (Founder Mutation) in the CYP17A1Gene: 20-Year Single-Center Experience.Semantic proximity Read ↗

A prevalent and three novel mutations in CYP11B1 gene identified in Chinese patients with 11-beta hydroxylase deficiency.Semantic proximity Read ↗

Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.Semantic proximity Read ↗

Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene.Semantic proximity Read ↗

[Genotypes and phenotypes in Uygur children with 21-hydroxylase deficiency in Xinjiang, China].Semantic proximity Read ↗

Non-classical 11β-hydroxylase deficiency caused by a novel heterozygous mutation: a case report and review of the literature.Semantic proximity Read ↗

[Analysis of a family with 11β-hydroxylase deficiency due to a mutation in the CYP11B1 gene].Semantic proximity Read ↗

Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency.Semantic proximity Read ↗

Diagnosis, treatment and genetic analysis of 11β -hydroxylase deficiency caused by CYP11B gene mutation.Semantic proximity Read ↗

A Recurrent Splice Variant Sheds Light on 11β-Hydroxylase Deficiency in a Unique Large Cohort.Semantic proximity Read ↗

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