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

Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.

Molecular vision - 24 Mar 2008

Zhou Jie, Kherani Femida, Bardakjian Tanya M, Katowitz James, Hughes Nkecha, Schimmenti Lisa A, Schneider Adele, Young Terri L

Abstract excerpt

PURPOSE: Mutations in the SOX2 and CHX10 genes have been reported in patients with anophthalmia and/or microphthalmia. In this study, we evaluated 34 anophthalmic/microphthalmic patient DNA samples (two sets of siblings included) for mutations and sequence variants in SOX2 and CHX10. METHODS: Conformational sensitive gel electrophoresis (CSGE) was used for the initial SOX2 and CHX10 screening of 34 affected...

Read the complete abstract on PubMed

Topics

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

Share to Anophthalmos
Share to Cohort Studies

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA-Binding Proteins

Share to Heterozygote

Share to HMGB Proteins

Share to Homeodomain Proteins

Share to Microphthalmos

Share to SOXB1 Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 18385794
PMCID: PMC2275209

Genes

SOX2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.PMID 18385794Read ↗

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

Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.Semantic proximity Read ↗

Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.Semantic proximity Read ↗

VSX2 mutations in autosomal recessive 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 ↗

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.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 ↗

SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.Semantic proximity Read ↗

Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.Semantic proximity Read ↗

A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies.Semantic proximity Read ↗

Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes.Semantic proximity Read ↗

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

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