Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome

A.F. Baas; M. Gabbett; M. Rimac; M. Kansikas; M.F. Raphael; R.A.J. Nievelstein; W. Nicholls; G.J.A. Offerhaus; D. Bodmer; A. Wernstedt; B. Krabichler; U. Strasser; M. Nyström; J. Zschocke; S.P. Robbertson; M.M. van Haelst; K. Wimmer

doi:10.1038/ejhg.2012.117.

Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome

Translated title of the contribution: Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome

A.F. Baas, M. Gabbett, M. Rimac, M. Kansikas, M.F. Raphael, R.A.J. Nievelstein, W. Nicholls, G.J.A. Offerhaus, D. Bodmer, A. Wernstedt, B. Krabichler, U. Strasser, M. Nyström, J. Zschocke, S.P. Robbertson, M.M. van Haelst, K. Wimmer

Research output: Contribution to journal › Article › Academic › peer-review

Translated title of the contribution	Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome
Original language	Undefined/Unknown
Pages (from-to)	55-61
Number of pages	7
Journal	European Journal of Human Genetics
Volume	21
Issue number	1
DOIs	https://doi.org/10.1038/ejhg.2012.117.
Publication status	Published - 2013

Access to Document

10.1038/ejhg.2012.117.

http://www.ncbi.nlm.nih.gov/pubmed/22692065

Cite this

Baas, A. F., Gabbett, M., Rimac, M., Kansikas, M., Raphael, M. F., Nievelstein, R. A. J., Nicholls, W., Offerhaus, G. J. A., Bodmer, D., Wernstedt, A., Krabichler, B., Strasser, U., Nyström, M., Zschocke, J., Robbertson, S. P., van Haelst, M. M., & Wimmer, K. (2013). Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome. European Journal of Human Genetics, 21(1), 55-61. https://doi.org/10.1038/ejhg.2012.117.

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Baas, AF, Gabbett, M, Rimac, M, Kansikas, M, Raphael, MF, Nievelstein, RAJ, Nicholls, W, Offerhaus, GJA, Bodmer, D, Wernstedt, A, Krabichler, B, Strasser, U, Nyström, M, Zschocke, J, Robbertson, SP, van Haelst, MM & Wimmer, K 2013, 'Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome', European Journal of Human Genetics, vol. 21, no. 1, pp. 55-61. https://doi.org/10.1038/ejhg.2012.117.

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T1 - Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome

AU - Baas, A.F.

AU - Gabbett, M.

AU - Rimac, M.

AU - Kansikas, M.

AU - Raphael, M.F.

AU - Nievelstein, R.A.J.

AU - Nicholls, W.

AU - Offerhaus, G.J.A.

AU - Bodmer, D.

AU - Wernstedt, A.

AU - Krabichler, B.

AU - Strasser, U.

AU - Nyström, M.

AU - Zschocke, J.

AU - Robbertson, S.P.

AU - van Haelst, M.M.

AU - Wimmer, K.

PY - 2013

Y1 - 2013

U2 - 10.1038/ejhg.2012.117.

DO - 10.1038/ejhg.2012.117.

M3 - Article

SN - 1018-4813

VL - 21

SP - 55

EP - 61

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 1

ER -