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Single Cell Transcriptomics Reveal Abnormalities in Neurosensory Patterning of the Chd7 Mutant Mouse Ear

The chromatin remodeling protein CHD7 is critical for proper formation of the mammalian inner ear. Humans with heterozygous pathogenic variants in CHD7 exhibit CHARGE syndrome, characterized by hearing loss and inner ear dysplasia, including abnormalities of the semicircular canals and Mondini malfo...

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Detalles Bibliográficos
Autores principales: Durruthy-Durruthy, Robert, Sperry, Ethan D., Bowen, Margot E., Attardi, Laura D., Heller, Stefan, Martin, Donna M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232929/
https://www.ncbi.nlm.nih.gov/pubmed/30459807
http://dx.doi.org/10.3389/fgene.2018.00473