Article

The mutational and phenotypic spectrum of <i>TUBA1A</i> -associated tubulinopathy

2018-09-26

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> The TUBA1A -associated tubulinopathy is clinically heterogeneous with brain malformations, microcephaly, developmental delay and epilepsy being the main clinical features. It is an autosomal dominant disorder mostly caused by de novo variants in TUBA1A . <h4>Results</h4> In three individuals with developmental delay we identified heterozygous de novo missense variants...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 4975f383-4e62-5450-849d-73f8394ce45e
DOI: 10.1101/427948

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

The mutational and phenotypic spectrum of <i>TUBA1A</i> -associated tubulinopathyDOI 10.1101/427948Read

Multiple and novel molecular mechanisms in TUBA1A-related tubulinopathy: insights from deep clinical and neuroradiological phenotyping.Semantic proximity Read

Missense variants in<i>TUBA4A</i>cause myo-tubulinopathiesSemantic 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

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

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

A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene.Semantic proximity Read

Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.Semantic proximity Read

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

A comprehensive functional landscape of α-tubulin TUBA1A variants illuminates microtubule biology and refines clinical classificationSemantic proximity Read

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

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

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