# Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/heterozygous-mutations-of-otx2-cause-severe-ocular-malformations/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Nicola Ragge,Alison G. M. Brown,Charlotte M. Poloschek,Birgit Lorenz,Richard A. Henderson,Michael W. Clarke,Isabelle Russell‐Eggitt,Alistair R. Fielder,Dianne Gerrelli,Juan Pedro Martı́nez-Barberá,Piers Ruddle,Jane A. Hurst,J. R. O. Collin,Alison Salt,Simon Timothy Cooper,Pamela J. Thompson,Sanjay M. Sisodiya,Kathleen A. Williamson,David Fitzpatrick,Veronica van Heyningen,Isabel M. Hanson |
| Citations | 311 |
| DOI | 10.1086/430721 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | bronze |
| OA URL | http://www.cell.com/article/S0002929707628961/pdf |
| OpenAlex ID | https://openalex.org/W2105691494 |
| PMID | 15846561 |
| Type | article |
| Year | 2005 |

## 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/)

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