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

[Analysis of clinical characteristics and genetic variants in a child with Isolated sulfite oxidase deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2023

Yang Zhigang, Quan Yali, Wang Yuan, Chen Guohong, Ma Yanli, Xu Kaili

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a child with Isolated sulfite oxidase deficiency (ISOD). METHODS: The child and her parents were subjected to targeted capture and next-generation sequencing. Pathogenicity of candidate variants was assessed based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). RESULTS: The child was found to harbor compound heterozygous variants of...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Metabolism, Inborn Errors
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Counseling

Share to Genomics

Share to High-Throughput Nucleotide Sequencing

Share to Mutation

Source

Identifiers

PMID: 37532499
DOI: 10.3760/cma.j.cn511374-20220303-00183

Genes

SUOX

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Analysis of clinical characteristics and genetic variants in a child with Isolated sulfite oxidase deficiency].PMID 37532499Read ↗

[Analysis of SUOX gene variants and clinical features in a child with Isolated sulfite oxidase deficiency].Semantic proximity Read ↗

Whole exome sequencing identified a homozygous novel mutation in SUOX gene causes extremely rare autosomal recessive isolated sulfite oxidase deficiency and literature reviewSemantic proximity Read ↗

Whole exome sequencing identified a homozygous novel mutation in SUOX gene causes extremely rare autosomal recessive isolated sulfite oxidase deficiency.Semantic proximity Read ↗

Whole exome sequencing identified novel mutation in SUOX gene causes extremely rare autosomal recessive isolated sulfite oxidase deficiencySemantic proximity Read ↗

Machine learning-based identification and characterization of 15 novel pathogenic SUOX missense mutations.Semantic proximity Read ↗

Clinical, neuroimaging, and genetic analysis of isolated sulfite oxidase deficiency in Chinese neonates: A case series and literature reviewSemantic proximity Read ↗

Isolated sulfite oxidase deficiency.Semantic proximity Read ↗

Mutation analysis of SUOX in isolated sulfite oxidase deficiency with ectopia lentis as the presenting feature: insights into genotype-phenotype correlation.Semantic proximity Read ↗

Severe isolated sulfide oxidase deficiency with a novel mutation.Semantic proximity Read ↗

Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients.Semantic proximity Read ↗

[Analysis of gene variant in an infant with succinic semialdehyde dehydrogenase deficiency].Semantic proximity Read ↗

A novel mutation in neonatal isolated sulphite oxidase deficiency.Semantic proximity Read ↗

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