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

<i>SOX2</i> mutation causes anophthalmia, hearing loss, and brain anomalies

6 Sept 2005

Abstract excerpt

The SOX2 transcription factor is expressed early in the embryonic stem cells of the blastocyst and later in the neural stem cells. It is a member of the SOX family of proteins that carry a DNA-binding high-mobility group domain and additional domains that regulate embryonic development and cell fate determinations. We surveyed 93 patients with severe eye malformations for mutations in SOX2. Here, we report a...

Read the complete abstract on PubMed

Topics

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

Share to Congenital Ear and Nasal Anomalies
Share to Ocular Disorders and Treatments
Share to Retinal Development and Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 16145681
DOI: 10.1002/ajmg.a.30803

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

<i>SOX2</i> mutation causes anophthalmia, hearing loss, and brain anomaliesPMID 16145681Read ↗

SOX2 anophthalmia syndrome.Semantic proximity Read ↗

Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans.Semantic proximity Read ↗

Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.Semantic proximity Read ↗

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

SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development.Semantic proximity Read ↗

Novel SOX2 partner-factor domain mutation in a four-generation family.Semantic proximity Read ↗

A de novo mutation of the SOX10 gene associated with inner ear malformation in a Guangxi family with Waardenburg syndrome type II.Semantic proximity Read ↗

De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.Semantic proximity Read ↗

Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.Semantic proximity Read ↗

SOX2 anophthalmia syndrome in adulthood - a neurodegenerative picture?Semantic proximity Read ↗

A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation.Semantic proximity Read ↗

Eye development genes and known syndromes.Semantic proximity Read ↗

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