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- W4306178512 abstract "Genetically confirmed Waardenburg-Shah syndrome (Waardenburg type IV) due to a de novo c.897.del mutation of SOX10. MRI shows delayed myelination and vestibular/cochlear malformations, common findings in this rare disease." @default.
- W4306178512 created "2022-10-14" @default.
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- W4306178512 date "2022-10-14" @default.
- W4306178512 modified "2023-10-01" @default.
- W4306178512 title "Waardenburg-Shah syndrome" @default.
- W4306178512 doi "https://doi.org/10.53347/rid-154516" @default.
- W4306178512 hasPublicationYear "2022" @default.
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