Clinical utility gene card for: Aniridia

Eur J Hum Genet. 2016 Nov;24(11). doi: 10.1038/ejhg.2016.73. Epub 2016 Jul 6.

Authors

Rose Richardson¹, Melanie Hingorani², Veronica Van Heyningen¹, Cheryl Gregory-Evans³, Mariya Moosajee^{1

2

4}

Affiliations

¹ Department of Ocular Biology and Therapeutics, UCL Institute of Ophthalmology, London, UK.
² Department of Genetics, Moorfields Eye Hospital NHS Foundation Trust, London, UK.
³ Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, British Columbia, Canada.
⁴ Department of Ophthalmology, Great Ormond Street Hospital, London, UK.

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Aniridia / diagnosis*
Aniridia / genetics*
Cost-Benefit Analysis
Genetic Testing
Genotype
Humans
Mutation
Nerve Tissue Proteins / genetics
PAX6 Transcription Factor / genetics
Pathology, Molecular
Risk Assessment
Sensitivity and Specificity

Substances

ELP4 protein, human
Nerve Tissue Proteins
PAX6 Transcription Factor
PAX6 protein, human

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