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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Bibliografske podrobnosti
izdano v:Am J Med Genet C Semin Med Genet
Main Authors: 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
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2017
Teme:
Research Article
Online dostop: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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