Journal article
PAX6 mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia?
- Abstract:
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BACKGROUND: We report a family with ptosis, cataract, iris hypoplasia and gradual corneal opacification occurring in association with a PAX6 mutation. DESIGN: Case-series. PARTICIPANTS: Fourteen family members - 8 affected, 6 unaffected controls. METHODS: All participants underwent ophthalmological assessment, including best-corrected visual acuity, slit-lamp-examination, pachymetry, endothelial cell-count, tonometry and dilated fundoscopy. All subjects underwent anthropometry and assessment ...
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- Publication status:
- Published
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Bibliographic Details
- Journal:
- Clinical and experimental ophthalmology
- Volume:
- 41
- Issue:
- 9
- Pages:
- 835-841
- Publication date:
- 2013-12-01
- DOI:
- EISSN:
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1442-9071
- ISSN:
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1442-6404
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:394887
- UUID:
-
uuid:3cc642df-4110-4165-a253-be29367fa72c
- Local pid:
- pubs:394887
- Source identifiers:
-
394887
- Deposit date:
- 2013-11-17
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- Copyright date:
- 2013
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