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

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

Human pathogenic variants of <i>TBC1D24</i> 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, char...

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Bibliographic Details
Main Authors: Risa Tona, Ivan A. Lopez, Cristina Fenollar-Ferrer, Rabia Faridi, Claudio Anselmi, Asma A. Khan, Mohsin Shahzad, Robert J. Morell, Shoujun Gu, Michael Hoa, Lijin Dong, Akira Ishiyama, Inna A. Belyantseva, Sheikh Riazuddin, Thomas B. Friedman
Format: Article
Language:English
Published: MDPI AG 2020-09-01
Series:Genes
Subjects:
<i>Tbc1d24</i> mouse models
hearing loss
DFNB86
DFNA65
DOORS
syndromic deafness
Online Access:https://www.mdpi.com/2073-4425/11/10/1122

Internet

https://www.mdpi.com/2073-4425/11/10/1122

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