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 analysis of infants with pontocerebellar hypoplasia type 6 caused by RARS2 variations

27 Nov 2023

Abstract excerpt

OBJECTIVE: Defects in RARS2 cause cerebellopontine hypoplasia type 6 (pontocerebellar hypoplasia type 6, PCH6, OMIM: #611523), a rare autosomal recessive inherited mitochondrial disease. Here, we report two male patients and their respective family histories. METHODS: We describe the clinical presentation and magnetic resonance imaging (MRI) findings of these patients. Whole-exome sequencing was used to identify...

Read the complete abstract on PubMed

Topics

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

Share to Congenital heart defects research
Share to Fetal and Pediatric Neurological Disorders
Share to Genetic Syndromes and Imprinting

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 38009286
DOI: 10.1002/epi4.12862

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and genetic analysis of infants with pontocerebellar hypoplasia type 6 caused by RARS2 variationsPMID 38009286Read ↗

RARS2 mutations in a sibship with infantile spasms.Semantic proximity Read ↗

Novel RARS2 Variants: Updating the Diagnosis and Pathogenesis of Pontocerebellar Hypoplasia Type 6.Semantic proximity Read ↗

Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2.Semantic proximity Read ↗

Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum.Semantic proximity Read ↗

Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype.Semantic proximity Read ↗

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.Semantic proximity Read ↗

Pontocerebellar hypoplasia type 6: A British case with PEHO‐like featuresSemantic proximity Read ↗

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.Semantic proximity Read ↗

Infantile onset progressive cerebellar atrophy and anterior horn cell Degeneration-A novel phenotype associated with mutations in the PLA2G6 gene.Semantic proximity Read ↗

[Early onset epileptic encephalopathy caused by mitochondrial arginyl-tRNA synthetase gene deficiency: report of two cases and literature review].Semantic proximity Read ↗

Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report.Semantic proximity Read ↗

Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations.Semantic proximity Read ↗

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