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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Autores principales: | Jacqueline M Ogier, Marina R Carpinelli, Benedicta D Arhatari, R C Andrew Symons, Benjamin T Kile, Rachel A Burt |
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Formato: | article |
Lenguaje: | EN |
Publicado: |
Public Library of Science (PLoS)
2014
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Materias: | |
Acceso en línea: | https://doaj.org/article/691b24bcc35f4517b1e9cb1c0a99c15f |
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