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

Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2.

American journal of medical genetics. Part A - 1 Jun 2013

Salem Nabeel J M, Hempel Maja, Heiliger Katrin-Janine, Hosie Stuart, Meitinger Thomas, Oexle Konrad

Abstract excerpt

A full term female newborn presented with prominent forehead, bilateral microphthalmia, iris coloboma and cataract, wide intercanthal distance, large, low-set and protruding ears, skin tag at the left nasal nostril, imperforate anus with rectovestibular fistula, and postnatal growth delay with brachymicrocephaly. A marker chromosome was not detectable and the copy number of 22q11 was normal. However, array CGH...

Read the complete abstract on PubMed

Topics

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

Share to Anus, Imperforate
Share to Cataract

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 3

Share to Coloboma

Share to Comparative Genomic Hybridization

Share to Haploinsufficiency

Share to Microphthalmos

Share to SOXB1 Transcription Factors

Source

Identifiers

PMID: 23613260
DOI: 10.1002/ajmg.a.35883

Genes

SOX2

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

Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2.PMID 23613260Read ↗

2q24 deletion in a 9-month old girl with anal atresia, hearing impairment, and hypotonia.Semantic proximity Read ↗

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

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

Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndromeSemantic proximity Read ↗

Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient.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.Semantic proximity Read ↗

Mutations in SOX2 cause anophthalmia.Semantic proximity Read ↗

[SOX2 defect and anophthalmia and microphthalmia].Semantic proximity Read ↗

SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant.Semantic proximity Read ↗

Aplasia cutis congenita of the scalp in a female infant with anophthalmia/microphthalmia-esophageal atresia syndrome negative for SOX2 mutation.Semantic proximity Read ↗

Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis.Semantic proximity Read ↗

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