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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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Dettagli Bibliografici
Pubblicato in:Indian J Ophthalmol
Autori principali: Kumawat, Devesh, Kumar, Vinod, Sahay, Pranita, Nongrem, Grisilda, Chandra, Parijat
Natura: Artigo
Lingua:Inglês
Pubblicazione: Wolters Kluwer - Medknow 2019
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Accesso online: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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