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

Progressive microcephaly is caused by compound-heterozygous mutations in QARS.

Clinical genetics - 1 Dec 2014

Waltl S

Abstract excerpt

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures Zhang et al. (2014) The American Journal of Human Genetics;94(4):547-558.

Read the complete abstract on PubMed

Topics

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

Share to Amino Acyl-tRNA Synthetases
Share to Brain Diseases
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Microcephaly

Share to Mutation

Share to Seizures

Source

Identifiers

PMID: 25041233
DOI: 10.1111/cge.12457

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25041233-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Progressive microcephaly is caused by compound-heterozygous mutations in QARS.PMID 25041233Read ↗

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.Semantic proximity Read ↗

Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation.Semantic proximity Read ↗

Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy: QARS1 new variants associated with a severe phenotype in a patientSemantic proximity Read ↗

[QARS1 gene related glutaminyl-tRNA synthetase deficiency syndrome: report of three cases and a review of literature].Semantic proximity Read ↗

Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities.Semantic proximity Read ↗

Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.Semantic proximity Read ↗

Aminoacyl-tRNA synthetase defects in neurological diseases.Semantic proximity Read ↗

Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease.Semantic proximity Read ↗

Recessive AARS1 variants perturb human and mouse development.Semantic proximity Read ↗

Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease.Semantic proximity Read ↗

[Mutations in aminoacyl-tRNA synthetase genes: an analysis of 10 cases].Semantic proximity Read ↗

A Novel Compound Heterozygous Mutation in Aprataxin Causes Slowly Progressive Ataxia without Oculomotor Apraxia.Semantic proximity Read ↗

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