Aniridia and optic nerve hypoplasia (Q80547671)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15359227 AND SRC:MED&resulttype=core&format=json

1 January 2020

title

Aniridia and optic nerve hypoplasia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15359227 AND SRC:MED&resulttype=core&format=json

1 January 2020

1 reference

optic nerve hypoplasia

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McCulley TJ

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15359227 AND SRC:MED&resulttype=core&format=json

1 January 2020

Mayer K

2

1 reference

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1 January 2020

Dahr SS

3

1 reference

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1 January 2020

Simpson J

4

1 reference

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1 January 2020

Holland EJ

5

1 reference

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1 January 2020

publication date

1 July 2005

1 reference

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1 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15359227 AND SRC:MED&resulttype=core&format=json

1 January 2020

volume

19

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1 January 2020

issue

7

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1 January 2020

page(s)

762-764

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Aniridia: recent achievements in paediatric practice

1 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1038/SJ.EYE.6701642

7 January 2021

Variable expressivity in autosomal dominant aniridia by clinical, electrophysiologic, and angiographic criteria

1 reference

https://api.crossref.org/works/10.1038/SJ.EYE.6701642

7 January 2021

Effects of PAX6 mutations on retinal function: an electroretinographic study

1 reference

https://api.crossref.org/works/10.1038/SJ.EYE.6701642

7 January 2021

Mutations of the PAX6 Gene Detected in Patients with a Variety of Optic-Nerve Malformations

1 reference

https://api.crossref.org/works/10.1038/SJ.EYE.6701642

7 January 2021

PAX6 missense mutation in isolated foveal hypoplasia

1 reference

https://api.crossref.org/works/10.1038/SJ.EYE.6701642

7 January 2021

Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.

1 reference

https://api.crossref.org/works/10.1038/SJ.EYE.6701642

7 January 2021

PAX6 in sensory development

1 reference

https://api.crossref.org/works/10.1038/SJ.EYE.6701642

7 January 2021