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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Bibliografische gegevens
Gepubliceerd in:Am J Med Genet C Semin Med Genet
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: John Wiley and Sons Inc. 2017
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Research Article
Online toegang: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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