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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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Main Authors: Ogier, Jacqueline M., Carpinelli, Marina R., Arhatari, Benedicta D., Symons, R. C. Andrew, Kile, Benjamin T., Burt, Rachel A.
格式: Artigo
語言:Inglês
出版: Public Library of Science 2014
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4026240/
https://ncbi.nlm.nih.gov/pubmed/24840056
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0097559
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