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Aniridia

Aniridia

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3449076

Aniridia

About this item

Full title

Aniridia

Publisher

Basingstoke: Nature Publishing Group

Journal title

European journal of human genetics : EJHG, 2012-10, Vol.20 (10), p.1011-1017

Language

English

Formats

Publication information

Publisher

Basingstoke: Nature Publishing Group

More information

Scope and Contents

Contents

Aniridia is a rare congenital disorder in which there is a variable degree of hypoplasia or the absence of iris tissue associated with multiple other ocular changes, some present from birth and some arising progressively over time. Most cases are associated with dominantly inherited mutations or deletions of the PAX6 gene. This article will review...

Alternative Titles

Full title

Aniridia

Authors, Artists and Contributors

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3449076

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3449076

Other Identifiers

ISSN

1018-4813

E-ISSN

1476-5438

DOI

10.1038/ejhg.2012.100

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