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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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| Publicado no: | Indian J Ophthalmol |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer - Medknow
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6727726/ https://ncbi.nlm.nih.gov/pubmed/31436206 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/ijo.IJO_181_19 |
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