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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 anir...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3720988

11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia

About this item

Full title

11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia

Publisher

Berlin/Heidelberg: Springer-Verlag

Journal title

Journal of applied genetics, 2013-08, Vol.54 (3), p.345-351

Language

English

Formats

Publication information

Publisher

Berlin/Heidelberg: Springer-Verlag

More information

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

Identifiers

Primary Identifiers

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

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