Clinical Characteristics and Identification of Pathogenic Variant in a Large Chinese Family With Waardenburg Syndrome
ABSTRACT Background Waardenburg syndrome is a genetic disorder characterized by sensorineural hearing loss and abnormal pigmentation. This study aims to explore the pathogenic variant in a large Waardenburg syndrome family and provide a theoretical basis for prenatal diagnosis of related family memb...
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| Principais autores: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Wiley
2025-09-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Assuntos: | |
| Acceso en liña: | https://doi.org/10.1002/mgg3.70134 |
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