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Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome
Mutations in the gene encoding the ATP dependent chromatin‐remodeling factor, CHD7 are the major cause of CHARGE (Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital‐urinary anomalies, and Ear defects) syndrome. Neurodevelopmental defects and a range of neurolog...
Autores principales: | Whittaker, Danielle E., Kasah, Sahrunizam, Donovan, Alex P. A., Ellegood, Jacob, Riegman, Kimberley L. H., Volk, Holger A., McGonnell, Imelda, Lerch, Jason P., Basson, M. Albert |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5765394/ https://www.ncbi.nlm.nih.gov/pubmed/29168327 http://dx.doi.org/10.1002/ajmg.c.31595 |
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