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CHD7 Deficiency in “Looper”, a New Mouse Model of CHARGE Syndrome, Results in Ossicle Malformation, Otosclerosis and Hearing Impairment

CHARGE syndrome is a rare human disorder caused by mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7). Characteristics of CHARGE are varied and include developmental ear and hearing anomalies. Here we report a novel mouse model of CHD7 dysfunction, termed Looper. The L...

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Detalles Bibliográficos
Autores principales: Ogier, Jacqueline M., Carpinelli, Marina R., Arhatari, Benedicta D., Symons, R. C. Andrew, Kile, Benjamin T., Burt, Rachel A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4026240/
https://www.ncbi.nlm.nih.gov/pubmed/24840056
http://dx.doi.org/10.1371/journal.pone.0097559