# Mutations in SOX2 cause anophthalmia

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/mutations-in-sox2-cause-anophthalmia/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Judy Fantes,Nicola Ragge,Sally Ann Lynch,Niolette I. McGill,J. R. O. Collin,Patricia N. Howard‐Peebles,Caroline Hayward,Anthony J. Vivian,Kathy Williamson,Veronica van Heyningen,David Fitzpatrick |
| Citations | 545 |
| DOI | 10.1038/ng1120 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | bronze |
| OA URL | https://www.nature.com/articles/ng1120.pdf |
| OpenAlex ID | https://openalex.org/W2036921369 |
| PMID | 12612584 |
| Type | article |
| Year | 2003 |

## Paper authors

- [J. R. O. Collin](https://scholariq.org/researchers/j-r-o-collin/)

## Paper primary topic

- [Ocular Disorders and Treatments](https://scholariq.org/topics/ocular-disorders-and-treatments/)

## Paper topics

- [Ocular Disorders and Treatments](https://scholariq.org/topics/ocular-disorders-and-treatments/)
- [Congenital Ear and Nasal Anomalies](https://scholariq.org/topics/congenital-ear-and-nasal-anomalies/)
- [Retinal Development and Disorders](https://scholariq.org/topics/retinal-development-and-disorders/)

---
Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.