11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with anir...
11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia
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Author / Creator
Publisher
Berlin/Heidelberg: Springer-Verlag
Journal title
Language
English
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Publication information
Publisher
Berlin/Heidelberg: Springer-Verlag
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Scope and Contents
Contents
Aniridia is a rare, bilateral, congenital ocular disorder causing incomplete formation of the iris, usually characterized by iris aplasia/hypoplasia. It can also appear with other ocular anomalies, such as cataracts, glaucoma, corneal pannus, optic nerve hypoplasia, macular hypoplasia, or ectopia lentis. In the majority of cases, it is caused by mu...
Alternative Titles
Full title
11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia
Authors, Artists and Contributors
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3720988
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3720988
Other Identifiers
ISSN
1234-1983
E-ISSN
2190-3883
DOI
10.1007/s13353-013-0154-0