CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct

Enlargement of the endolymphatic sac, duct, and vestibular aqueduct (EVA) is the most common inner ear malformation identified in patients with sensorineural hearing loss. EVA is associated with pathogenic variants in SLC26A4. However, in European–Caucasian populations, about 50% of patients with EV...

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Detalles Bibliográficos
Autores principales: Roux, Isabelle, Fenollar-Ferrer, Cristina, Lee, Hyun Jae, Chattaraj, Parna, Lopez, Ivan A., Han, Kyungreem, Honda, Keiji, Brewer, Carmen C., Butman, John A., Morell, Robert J., Martin, Donna M., Griffith, Andrew J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10511616/
https://www.ncbi.nlm.nih.gov/pubmed/37668839
http://dx.doi.org/10.1007/s00439-023-02581-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10511616/
https://www.ncbi.nlm.nih.gov/pubmed/37668839
http://dx.doi.org/10.1007/s00439-023-02581-x

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