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 family illustrating the mild phenotypic spectrum of TUBB2B variants.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Nov 2021

Dekker Jordy, Diderich Karin E M, Schot Rachel, Husen Sofie C, Dremmen Marjolein H G, Go Attie T J I, Weerts Marjolein J A, van Slegtenhorst Marjon A, Mancini Grazia M S

Abstract excerpt

TUBB2B codes for one of the isotypes of β-tubulin and dominant negative variants in this gene result in distinctive malformations of cortical development (MCD), including dysgyria, dysmorphic basal ganglia and cerebellar anomalies. We present a novel family with a heterozygous missense variant in TUBB2B and an unusually mild phenotype. First, at 21 37 weeks of gestation ultrasonography revealed a fetus with a...

Read the complete abstract on PubMed

Topics

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

Share to Cellular transport and secretion
Share to Magnetic Resonance Imaging

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Malformations of Cortical Development

Share to Microtubule and mitosis dynamics

Share to Mutation

Share to Phenotype

Share to Pregnancy

Share to Tubulin

Source

Identifiers

PMID: 34592644
DOI: 10.1016/j.ejpn.2021.09.007

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

A novel family illustrating the mild phenotypic spectrum of TUBB2B variants.PMID 34592644Read ↗

Expanding the Clinical and Molecular Spectrum of <i>TUBB2B</i> Through Distinct Variants Identified Across Multiple FamiliesSemantic proximity Read ↗

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

Tubulinopathy Case Series: Marked Intrafamilial Phenotypic Variability Associated With a Novel Missense TUBB Variant.Semantic proximity Read ↗

Defining the phenotypical spectrum associated with variants in TUBB2A.Semantic proximity Read ↗

Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study.Semantic proximity Read ↗

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

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

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.Semantic proximity Read ↗

TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.Semantic proximity Read ↗

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

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

Genotypic and phenotypic heterogeneity in tubulinopathies: insights from a Turkish multicenter cohort.Semantic proximity Read ↗

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