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Mouse Models for the Dissection of CHD7 Functions in Eye Development and the Molecular Basis for Ocular Defects in CHARGE Syndrome

PURPOSE: CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary tract abnormalities, and Ear abnormalities and deafness) is the second-leading cause of deaf-blindness after Usher syndrome. Heterozygous mutations i...

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Pubblicato in:Invest Ophthalmol Vis Sci
Autori principali: Gage, Philip J., Hurd, Elizabeth A., Martin, Donna M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Association for Research in Vision and Ophthalmology 2015
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4682606/
https://ncbi.nlm.nih.gov/pubmed/26670829
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.15-18069
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