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

A novel TUBG1 mutation with neurodevelopmental disorder caused by malformations of cortical development.

BioMed research international - 1 Jan 2021

Shen Ru, Zhang Zhen, Zhuang Yu, Yang Xiaohong, Duan Lifen

Abstract excerpt

Neurodevelopmental disorder caused by malformations of cortical development is a rare neurological disease. Heterozygous missense variants in the TUBG1 gene lead to malformations of human cortical development, which further result in intellectual disability, developmental retardation, and epilepsy. To the best of our knowledge, only thirteen patients and a total of nine pathogenic TUBG1 variants have been...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Exome Sequencing
Share to Malformations of Cortical Development

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Neurodevelopmental Disorders

Share to Tubulin

Source

Open in PubMed Open full text

Identifiers

PMID: 33728335
DOI: 10.1155/2021/6644274
PMCID: PMC7935588

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

A novel TUBG1 mutation with neurodevelopmental disorder caused by malformations of cortical development.PMID 33728335Read ↗

Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations.Semantic proximity Read ↗

Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report.Semantic proximity Read ↗

[Genetic analysis of a child with Complex cortical dysplasia with other brain malformations type 6 due to a p.M73V variant of TUBB gene].Semantic proximity Read ↗

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants.Semantic proximity Read ↗

Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review.Semantic proximity Read ↗

Thick Corpus Callosum: An Unusual Finding of TUBGCP2-Related Tubulinopathy.Semantic proximity Read ↗

Investigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical developmentSemantic proximity Read ↗

The mutational and phenotypic spectrum of <i>TUBA1A</i> -associated tubulinopathySemantic proximity Read ↗

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?Semantic proximity Read ↗

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.Semantic proximity Read ↗

The First Report of a Homozygous<i>TUBG1</i>Splice Variant: Expanding the Genetic Spectrum of Tubulinopathies and Confirming the Dominant-Negative EffectSemantic proximity Read ↗

A Novel Pathogenic TUBA1A Variant in a Croatian Infant Is Linked to a Severe Tubulinopathy with Walker-Warburg-like Features.Semantic proximity Read ↗

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