Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness

Human pathogenic variants of TBC1D24 are associated with clinically heterogeneous phenotypes, including recessive nonsyndromic deafness DFNB86, dominant nonsyndromic deafness DFNA65, seizure accompanied by deafness, a variety of isolated seizure phenotypes and DOORS syndrome, characterized by deafne...

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Detalles Bibliográficos
Autores principales: Tona, Risa, Lopez, Ivan A., Fenollar-Ferrer, Cristina, Faridi, Rabia, Anselmi, Claudio, Khan, Asma A., Shahzad, Mohsin, Morell, Robert J., Gu, Shoujun, Hoa, Michael, Dong, Lijin, Ishiyama, Akira, Belyantseva, Inna A., Riazuddin, Sheikh, Friedman, Thomas B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7598720/
https://www.ncbi.nlm.nih.gov/pubmed/32987832
http://dx.doi.org/10.3390/genes11101122

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7598720/
https://www.ncbi.nlm.nih.gov/pubmed/32987832
http://dx.doi.org/10.3390/genes11101122

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