Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum (Nature Genetics (2008) 40, (1065-1067))

Juliane Najm; Denise Horn; Isabella Wimplinger; Jeffrey A. Golden; Victor V. Chizhikov; Jyotsna Sudi; Susan L. Christian; Reinhard Ullmann; Alma Kuechler; Carola A. Haas; Armin Flubacher; Lawrence R. Charnas; Gökhan Uyanik; Ulrich Frank; Eva Klopocki; William B. Dobyns; Kerstin Kutsche

doi:10.1038/ng1108-1384b

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum (Nature Genetics (2008) 40, (1065-1067))

Juliane Najm
, Denise Horn
, Isabella Wimplinger
, Jeffrey A. Golden
, Victor V. Chizhikov
, Jyotsna Sudi
, Susan L. Christian
, Reinhard Ullmann
, Alma Kuechler
, Carola A. Haas
, Armin Flubacher
, Lawrence R. Charnas
, Gökhan Uyanik
, Ulrich Frank
, Eva Klopocki
, William B. Dobyns
, Kerstin Kutsche

Pediatrics

Research output: Contribution to journal › Comment/debate › peer-review

1 Scopus citations

Original language	English (US)
Pages (from-to)	1384
Number of pages	1
Journal	Nature Genetics
Volume	40
Issue number	11
DOIs	https://doi.org/10.1038/ng1108-1384b
State	Published - Nov 2008

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10.1038/ng1108-1384b

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Najm, J., Horn, D., Wimplinger, I., Golden, J. A., Chizhikov, V. V., Sudi, J., Christian, S. L., Ullmann, R., Kuechler, A., Haas, C. A., Flubacher, A., Charnas, L. R., Uyanik, G., Frank, U., Klopocki, E., Dobyns, W. B., & Kutsche, K. (2008). Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum (Nature Genetics (2008) 40, (1065-1067)). Nature Genetics, 40(11), 1384. https://doi.org/10.1038/ng1108-1384b

Najm, J, Horn, D, Wimplinger, I, Golden, JA, Chizhikov, VV, Sudi, J, Christian, SL, Ullmann, R, Kuechler, A, Haas, CA, Flubacher, A, Charnas, LR, Uyanik, G, Frank, U, Klopocki, E, Dobyns, WB & Kutsche, K 2008, 'Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum (Nature Genetics (2008) 40, (1065-1067))', Nature Genetics, vol. 40, no. 11, pp. 1384. https://doi.org/10.1038/ng1108-1384b

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title = "Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum (Nature Genetics (2008) 40, (1065-1067))",

author = "Juliane Najm and Denise Horn and Isabella Wimplinger and Golden, \{Jeffrey A.\} and Chizhikov, \{Victor V.\} and Jyotsna Sudi and Christian, \{Susan L.\} and Reinhard Ullmann and Alma Kuechler and Haas, \{Carola A.\} and Armin Flubacher and Charnas, \{Lawrence R.\} and G{\"o}khan Uyanik and Ulrich Frank and Eva Klopocki and Dobyns, \{William B.\} and Kerstin Kutsche",

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doi = "10.1038/ng1108-1384b",

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AU - Najm, Juliane

AU - Horn, Denise

AU - Wimplinger, Isabella

AU - Golden, Jeffrey A.

AU - Chizhikov, Victor V.

AU - Sudi, Jyotsna

AU - Christian, Susan L.

AU - Ullmann, Reinhard

AU - Kuechler, Alma

AU - Haas, Carola A.

AU - Flubacher, Armin

AU - Charnas, Lawrence R.

AU - Uyanik, Gökhan

AU - Frank, Ulrich

AU - Klopocki, Eva

AU - Dobyns, William B.

AU - Kutsche, Kerstin

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DO - 10.1038/ng1108-1384b

M3 - Comment/debate

AN - SCOPUS:55049115845

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VL - 40

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JO - Nature Genetics

JF - Nature Genetics

IS - 11

ER -

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum (Nature Genetics (2008) 40, (1065-1067))

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