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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...
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| Publicado no: | Am J Med Genet C Semin Med Genet |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5765394/ https://ncbi.nlm.nih.gov/pubmed/29168327 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.31595 |
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