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

Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita.

American journal of medical genetics. Part A - 1 Aug 2022

Weber Mathilde, Jaber Dana, Encha-Razavi Ferechte, Julien Emmanuel, Grevoul-Fesquet Julie, Steffann Julie, Melki Judith, Martinovic Jelena

Abstract excerpt

The recent finding that some patients with fetal akinesia deformation sequence (FADS) carry variants in the TUBB2B gene has prompted us to add to the existing literature a first description of two fetal FADS cases carrying TUBA1A variants. Hitherto, only isolated cortical malformations have been described with TUBA1A mutation, including microlissencephaly, lissencephaly, central pachygyria and polymicrogyria-like...

Read the complete abstract on PubMed

Topics

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

Share to Arthrogryposis
Share to Lissencephaly

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Malformations of Cortical Development

Share to Mutation

Share to Neurogenetic and Muscular Disorders Research

Share to RNA regulation and disease

Share to RNA Research and Splicing

Share to Tubulin

Source

Identifiers

PMID: 35686685
DOI: 10.1002/ajmg.a.62866

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita.PMID 35686685Read ↗

De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.Semantic proximity Read ↗

De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.Semantic 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 ↗

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.Semantic proximity Read ↗

Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.Semantic proximity Read ↗

Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.Semantic proximity Read ↗

Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.Semantic proximity Read ↗

Brain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases.Semantic proximity Read ↗

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

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

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

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