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

Mild Phenotypes of Gyrate Atrophy in a Heterozygous Carrier with One Variant Allele of OAT.

Genes - 2 Aug 2024

Ju Yuqiao, Zong Yuan, Li Xiao, Gao Fengjuan, Chang Qing, Huang Xin

Abstract excerpt

This study aimed to identify whether gyrate atrophy of the choroid and retina (GACR) heterozygous individuals have possible clinical manifestations and to explore the potential pathogenic mechanism. In this retrospective study, we surveyed a two-generation pedigree of an individual diagnosed with GACR. Two family members underwent ophthalmological, hematologic, and genetic tests. An arginine-restricted diet with...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Heterozygote
Share to Pedigree

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Phenotype

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 39202380
DOI: 10.3390/genes15081020
PMCID: PMC11353755

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mild Phenotypes of Gyrate Atrophy in a Heterozygous Carrier with One Variant Allele of OAT.PMID 39202380Read ↗

Mild Phenotypes of Gyrate Atrophy in a Carrier with One Variant Allele of <em>OAT</em>Semantic proximity Read ↗

Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene.Semantic proximity Read ↗

A novel c.980C>G variant in OAT results in identifiable gyrate atrophy phenotype associated with retinal detachment in a young female.Semantic proximity Read ↗

Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation.Semantic proximity Read ↗

Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects.Semantic proximity Read ↗

Multimodal imaging and genetic screening in Mexican patients with Gyrate atrophy: identification of novel OAT pathogenic variants.Semantic proximity Read ↗

Multimodal imaging and genetic screening in Mexican patients with Gyrate Atrophy. Identification of novel OAT pathogenic variants.Semantic proximity Read ↗

Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophySemantic proximity Read ↗

Multimodal characterization of a novel mutation causing vitamin B6-responsive gyrate atrophy.Semantic proximity Read ↗

Gyrate atrophy of the choroid and retina diagnosed by ornithine-δ-aminotransferase gene analysis: a case report.Semantic proximity Read ↗

Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.Semantic proximity Read ↗

Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D.Semantic proximity Read ↗

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