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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Detalles Bibliográficos
Autores principales: Kumawat, Devesh, Kumar, Vinod, Sahay, Pranita, Nongrem, Grisilda, Chandra, Parijat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6727726/
https://www.ncbi.nlm.nih.gov/pubmed/31436206
http://dx.doi.org/10.4103/ijo.IJO_181_19

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6727726/
https://www.ncbi.nlm.nih.gov/pubmed/31436206
http://dx.doi.org/10.4103/ijo.IJO_181_19

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