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

Neurodevelopmental disorder with dystonia due to SOX6 mutations.

Molecular genetics & genomic medicine - 1 Dec 2022

Schneider Susanne A, Mueller Christine, Biskup Saskia, Fietzek Urban M, Schroeder Andreas Sebastian

Abstract excerpt

BACKGROUND: Mutations in SOX6 have recently been recognized as a new molecular cause of neurodevelopmental disorders characterized by intellectual disability, behavioral changes, and nonspecific facial and digital skeletal abnormalities. To date, <25 cases have been reported in the literature. METHODS AND FINDINGS: Here we report a new case of SOX6-associated neurodegeneration and expand the phenotype to include...

Read the complete abstract on PubMed

Topics

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

Share to Levodopa
Share to Dystonia
Share to Dystonic Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Facial Asymmetry

Share to Musculoskeletal Abnormalities

Share to Neurodevelopmental Disorders

Share to SOXD Transcription Factors

Share to Tremor

Source

Open in PubMed Open full text

Identifiers

PMID: 36069193
DOI: 10.1002/mgg3.2051
PMCID: PMC9747553

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Neurodevelopmental disorder with dystonia due to SOX6 mutations.PMID 36069193Read ↗

Disruption of SOX6 is associated with a rapid-onset dopa-responsive movement disorder, delayed development, and dysmorphic features.Semantic proximity Read ↗

Expansion of the Phenotypic Spectrum of TNRC6B-Related Neurodevelopmental Disorder in a Three-Generation Family with 22q13.1 Deletion.Semantic proximity Read ↗

Expansion of the Phenotypic Spectrum of TNRC6B-Related Neurodevelopmental Disorder in a Three-Generation Family with 22q13.1 DeletionSemantic proximity Read ↗

Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.Semantic proximity Read ↗

A truncating variant in the THOC6 gene with new findings in a patient with Beaulieu-Boycott-Innes syndrome.Semantic proximity Read ↗

Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research studySemantic proximity Read ↗

Novel variants in the SOX11 gene: clinical description of seven new patients.Semantic proximity Read ↗

Clinical characterization of Lamb-Shaffer syndrome: a case report and literature review.Semantic proximity Read ↗

Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency.Semantic proximity Read ↗

Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.Semantic proximity Read ↗

A novel missense variant in OTUD5 causes X-linked multiple congenital anomalies-neurodevelopmental syndrome.Semantic proximity Read ↗

Ophthalmic manifestations of Lamb-Shaffer syndrome: a case presentation and literature review.Semantic proximity Read ↗

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