Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss

Hearing loss and peripheral neuropathy are two clinical entities that are genetically and phenotypically heterogeneous and sometimes co-occurring. Using exome sequencing and targeted segregation analysis, we investigated the genetic etiology of peripheral neuropathy and hearing loss in a large Ashke...

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Detalles Bibliográficos
Autores principales: Hirsch, Yoel, Chung, Wendy K., Novoselov, Sergey, Weimer, Louis H., Rossor, Alexander, LeDuc, Charles A., McPartland, Amanda J., Cabrera, Ernesto, Ekstein, Josef, Scher, Sholem, Nelson, Rick F., Schiavo, Giampietro, Henderson, Lindsay B., Booth, Kevin T. A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10219021/
https://www.ncbi.nlm.nih.gov/pubmed/37240244
http://dx.doi.org/10.3390/ijms24108897

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10219021/
https://www.ncbi.nlm.nih.gov/pubmed/37240244
http://dx.doi.org/10.3390/ijms24108897

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