KMT2D Deficiency Causes Sensorineural Hearing Loss in Mice and Humans

KMT2D Deficiency Causes Sensorineural Hearing Loss in Mice and Humans

Individuals with Kabuki syndrome type 1 (KS1) often have hearing loss recognized in middle childhood. Current clinical dogma suggests that this phenotype is caused by frequent infections due to the immune deficiency in KS1 and/or secondary to structural abnormalities of the ear. To clarify some aspe...

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Bibliographic Details
Main Authors: Allison J. Kalinousky, Teresa R. Luperchio, Katrina M. Schrode, Jacqueline R. Harris, Li Zhang, Valerie B. DeLeon, Jill A. Fahrner, Amanda M. Lauer, Hans T. Bjornsson
Format: Article
Language:English
Published: MDPI AG 2023-12-01
Series:Genes
Subjects:
Kabuki syndrome
congenital hearing loss
genetic syndrome
hair cells
MLL2
Online Access:https://www.mdpi.com/2073-4425/15/1/48

Internet

https://www.mdpi.com/2073-4425/15/1/48

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