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X-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner
The phenotypic spectrum among girls with heterozygous mutations in the X-linked intellectual disability (XLID) gene CASK (calcium/calmodulin-dependent serine protein kinase) includes postnatal microcephaly, ponto-cerebellar hypoplasia, seizures, optic nerve hypoplasia, growth retardation and hypoton...
Autores principales: | Srivastava, Sarika, McMillan, Ryan, Willis, Jeffery, Clark, Helen, Chavan, Vrushali, Liang, Chen, Zhang, Haiyan, Hulver, Matthew, Mukherjee, Konark |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4818453/ https://www.ncbi.nlm.nih.gov/pubmed/27036546 http://dx.doi.org/10.1186/s40478-016-0295-6 |
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