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

Clinical and genetic spectrum of RNF216-related disorder: a new case and literature review.

Journal of medical genetics - 19 Apr 2024

Wu Chujun, Zhang Zaiqiang

Abstract excerpt

BACKGROUND: Cases of RNF216-related disorder have been reported sporadically. However, the clinical and genetic spectrum of this disorder has not been fully studied. METHODS: We identified an individual with a novel causative RNF216 variant in our institution and reviewed all individuals with causative RNF216 variants in previous reports. The clinical and genetic features of all the described individuals were...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Cerebellar Ataxia
Share to Chorea

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypogonadism

Share to Mutation

Share to Ubiquitin-Protein Ligases

Share to Young Adult

Source

Identifiers

PMID: 38050071
DOI: 10.1136/jmg-2023-109397

Genes

RNF216

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

Clinical and genetic spectrum of RNF216-related disorder: a new case and literature review.PMID 38050071Read ↗

Gordon Holmes syndrome and Huntington-like disease: Two types of RNF216-related disordersSemantic proximity Read ↗

A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome.Semantic proximity Read ↗

A novel de novo RNF216 mutation associated with autosomal recessive Huntington-like disorder.Semantic proximity Read ↗

A Novel Mutation in Rnf216 Gene in a Turkish Case With Gordon Holmes SyndromeSemantic proximity Read ↗

A novel mutation in RNF216 gene in an Indian case with Gordon Holmes syndrome.Semantic proximity Read ↗

Whole-Exome Sequencing Identified a Novel Mutation in RNF216 in a Family with Gordon Holmes Syndrome.Semantic proximity Read ↗

RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder.Semantic proximity Read ↗

RNF216 Variants Found in Patients With Dementia, Hypogonadotropic Hypogonadism, and Severe Ataxia Deregulate Autophagy.Semantic proximity Read ↗

Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes.Semantic proximity Read ↗

Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features.Semantic proximity Read ↗

Expanding the Clinical Spectrum of NR4A2-Related Disorder: A Systematic Literature Review and Case Series.Semantic proximity Read ↗

Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome.Semantic proximity Read ↗

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