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Novel Intragenic PAX6 Deletion in a Pedigree with Aniridia, Morbid Obesity, and Diabetes
- Source :
- Current Eye Research. 45:91-96
- Publication Year :
- 2019
- Publisher :
- Informa UK Limited, 2019.
-
Abstract
- Purpose: Aniridia is a rare congenital eye disease, characterized by a constellation of symptoms including hypoplastic irides, foveal hypoplasia, early cataract, corneal stem cell deficienc...
- Subjects :
- congenital, hereditary, and neonatal diseases and abnormalities
medicine.medical_specialty
genetic structures
business.industry
Glaucoma
medicine.disease
eye diseases
Sensory Systems
Hypoplasia
Morbid obesity
03 medical and health sciences
Cellular and Molecular Neuroscience
Ophthalmology
0302 clinical medicine
Aniridia
Foveal
Diabetes mellitus
030221 ophthalmology & optometry
medicine
sense organs
PAX6
Stem cell
business
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 14602202 and 02713683
- Volume :
- 45
- Database :
- OpenAIRE
- Journal :
- Current Eye Research
- Accession number :
- edsair.doi...........4241b8ff3062b902069dbed803a925f2
- Full Text :
- https://doi.org/10.1080/02713683.2019.1649704