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- W2793772378 abstract "Waardenburg Syndrome (WS) is a condition characterized by pigmentary changes of the hair or skin, hearing loss, heterochromia iridis, and dystopia canthorum. There are four main types of WS, which can be commonly caused by mutations in the PAX3, MITF, EDNRB, EDN3, SNAI2, or SOX10 genes. Herein, we present a patient with Waardenburg Syndrome type 2 with no findings of mutations in the commonly associated genes." @default.
- W2793772378 created "2018-03-29" @default.
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- W2793772378 date "2018-01-01" @default.
- W2793772378 modified "2023-09-23" @default.
- W2793772378 title "Wardenburg syndrome type 2 in a woman with no genomic mutation commonly associated with the syndrome" @default.
- W2793772378 doi "https://doi.org/10.5070/d3242038181" @default.
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- W2793772378 hasPublicationYear "2018" @default.
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