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

Biallelic variants in GTF3C3 encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish

24 Dec 2024

Abstract excerpt

Abstract RNA polymerase III transcribes essential non-coding RNAs, a process regulated by transcription factors TFIIIB and TFIIIC. Although germline variants in TFIIIC subunit genes have been described in a few patients with neurodevelopmental disorders, the associated pathogenesis and clinical spectrum are not yet well defined. Herein, we describe the identification of biallelic variants in GTF3C3, which encodes...

Read the complete abstract on PubMed

Topics

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

Share to Cardiomyopathy and Myosin Studies
Share to Congenital heart defects research
Share to Genetics and Neurodevelopmental Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 40040844
DOI: 10.1093/braincomms/fcaf055

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Biallelic variants in GTF3C3 encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafishPMID 40040844Read ↗

Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability.Semantic proximity Read ↗

Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.Semantic proximity Read ↗

Identification of a novel pathogenic TBCK variant in a Chinese patient with infantile hypotonia with psychomotor retardation and characteristic facies type 3 (IHPRF3): a case report.Semantic proximity Read ↗

Expanding the phenotype of UPF3B-related disorder: Case reports and literature review.Semantic proximity Read ↗

Haploinsufficiency of SF3B2 causes craniofacial microsomia.Semantic proximity Read ↗

Inherited human TFIIIA deficiency disrupts T cell developmentSemantic proximity Read ↗

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.Semantic proximity Read ↗

De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.Semantic proximity Read ↗

Integrated phenotypic and mutational approach defines EBF3-related HADD syndrome genotype-phenotype relationshipsSemantic proximity Read ↗

A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans.Semantic proximity Read ↗

Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.Semantic proximity Read ↗

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.Semantic proximity Read ↗

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