Seeing the diagnosis on karyotype—SOX2 and eye development
Author:
Affiliation:
1. Queens Medical Centre, University of Nottingham Medical School, Nottingham, UK
2. Department of Clinical Genetics, City Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK
Publisher
Informa UK Limited
Subject
Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health
Link
https://www.tandfonline.com/doi/pdf/10.1080/13816810.2017.1290119
Reference4 articles.
1. The genetic architecture of microphthalmia, anophthalmia and coloboma
2. Bilateral microphthalmos with colobomatous orbital cyst and de-novo balanced translocation t(3;5)
3. Mutations in SOX2 cause anophthalmia
4. Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome
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1. Prenatal Array-CGH Detection of 3q26.32q26.33 Interstitial Deletion Encompassing the SOX2 Gene: Ultrasound, Pathological, and Cytogenetic Findings;Fetal and Pediatric Pathology;2023-09-25
2. Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study;American Journal of Medical Genetics Part A;2021-09-25
3. The relevance of the cytogenetic analysis in syndromic microphthalmia/anophthalmia;Ophthalmic Genetics;2019-11-02
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