Bilateral asymmetrical partial heterochromia of iris and fundus in Waardenburg syndrome type 2A with a novel MITF gene mutation
A 3-year-old girl presented with bilateral asymmetrical partial heterochromia of iris and fundus. The parents also complained of bilateral hearing loss in the child. Suspecting an auditory-pigmentary syndrome, systemic and genetic evaluation was performed. The child had profound sensory-neural heari...
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| Glavni autori: | , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Wolters Kluwer Medknow Publications
2019-01-01
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| Serija: | Indian Journal of Ophthalmology |
| Teme: | |
| Online pristup: | http://www.ijo.in/article.asp?issn=0301-4738;year=2019;volume=67;issue=9;spage=1481;epage=1483;aulast= |
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