Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms
Abstract Objective Branchio-oto-renal syndrome (BOR, OMIM#113,650) is a rare autosomal dominant disorder that presents with a variety of symptoms, including hearing loss (sensorineural, conductive, or mixed), structural abnormalities affecting the outer, middle, and inner ear, branchial fistulas or...
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Asıl Yazarlar: | , , , , , , , |
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Materyal Türü: | Kitap |
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BMC,
2024-04-01T00:00:00Z.
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Yer Numarası: |
A1234.567 |
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Kopya Bilgisi 1 | Kütüphanede |