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

Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children.

Orphanet journal of rare diseases - 30 Dec 2019

Fan Lijun, Ren Xiaoya, Song Yanning, Su Chang, Fu Junfen, Gong Chunxiu

Abstract excerpt

BACKGROUND: Antley-Bixler syndrome (ABS) caused by P450 oxidoreductase deficiency (PORD) is a congenital adrenal hyperplasia with skeletal malformations and disordered sex development in both sexes. There have been no reports of ABS caused by PORD in Chinese children. METHODS: We described the clinical and genetic characteristics of eight Chinese children with ABS caused by PORD and compared them with those of...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Adrenal Hyperplasia, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Asian People

Share to Child, Preschool

Share to Cohort Studies

Share to Cytochrome P-450 Enzyme System

Share to Infant

Source

Open in PubMed Open full text

Identifiers

PMID: 31888681
DOI: 10.1186/s13023-019-1283-2
PMCID: PMC6937861

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

Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children.PMID 31888681Read ↗

A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.Semantic proximity Read ↗

Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.Semantic proximity Read ↗

46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene.Semantic proximity Read ↗

Case Report: Integrating clinical presentation and genetic analysis in P450 oxidoreductase deficiency: a novel mutation and systematic review.Semantic proximity Read ↗

Cytochrome P450 oxidoreductase deficiency caused by a novel mutation in the POR gene in two siblings: case report and literature review.Semantic proximity Read ↗

P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms.Semantic proximity Read ↗

P450 oxidoreductase deficiency: a new form of congenital adrenal hyperplasia.Semantic proximity Read ↗

Clinical Characteristics and Molecular Aetiology of Cytochrome P450 Oxidoreductase Deficiency Diagnosed in 46,XX Patients.Semantic proximity Read ↗

Cytochrome P450 oxidoreductase deficiency: rare congenital disorder leading to skeletal malformations and steroidogenic defects.Semantic proximity Read ↗

Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review.Semantic proximity Read ↗

Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.Semantic proximity Read ↗

Pharmacogenomics of human P450 oxidoreductaseSemantic proximity Read ↗

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