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  Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

Najm, J., Horn, D., Wimplinger, I., Golden, J. A., Chizhikov, V. V., Sudi, J., et al. (2009). Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nature Genetics, 40(9), 1065-1067. doi:10.1038/ng.194.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7D22-9 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7D23-7
Genre: Journal Article
Alternative Title : Nat Genet

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 Creators:
Najm, Juliane, Author
Horn, Denise, Author
Wimplinger, Isabella, Author
Golden, Jeffrey A., Author
Chizhikov, Victor V., Author
Sudi, Jyotsna, Author
Christian, Susan L., Author
Ullmann, Reinhard1, Author              
Kuechler, Alma, Author
Haas, Carola A., Author
Flubacher, Armin, Author
Charnas, Lawrence R., Author
Uyanik, Gökhan, Author
Frank, Ulrich, Author
Klopocki, Eva2, Author              
Dobyns, William B., Author
Kutsche, Kerstin, Author
Affiliations:
1Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              
2Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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 Abstract: CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes involved in cortical development such as RELN. Here we describe a previously unreported X-linked brain malformation syndrome caused by mutations of CASK. All five affected individuals with CASK mutations had congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia, and severe mental retardation.

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Language(s): eng - English
 Dates: 2009-09
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Degree: -

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Title: Nature Genetics
  Alternative Title : Nat Genet
Source Genre: Journal
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Pages: - Volume / Issue: 40 (9) Sequence Number: - Start / End Page: 1065 - 1067 Identifier: ISSN: 1061-4036