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

Autor: Mieke M. van Haelst, Rutger A.J. Nievelstein, Stephen P. Robertson, Milan Rimac, Danielle Bodmer, Michael T. Gabbett, Minna Nyström, Annekatrin Wernstedt, Johan Offerhaus, Birgit Krabichler, Johannes Zschocke, Martine Raphael, Katharina Wimmer, Minttu Kansikas, Wayne Nicholls, Ulrich Strasser, Annette F. Baas

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, 21(1), 55-61. Nature Publishing Group
Baas, A F, Gabbett, M, Rimac, M, Kansikas, M, Raphael, M, Nievelstein, R A, Nicholls, W, Offerhaus, J, Bodmer, D, Wernstedt, A, Krabichler, B, Strasser, U, Nyström, M, Zschocke, J, Robertson, 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, vol. 21, no. 1, pp. 55-61 . https://doi.org/10.1038/ejhg.2012.117
European journal of human genetics, 21(1), 55-61. Nature Publishing Group

Constitutional mismatch repair deficiency (CMMR-D) syndrome is a rare inherited childhood cancer predisposition caused by biallelic germline mutations in one of the four mismatch repair (MMR)-genes, MLH1, MSH2, MSH6 or PMS2. Owing to a wide tumor spe

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https://doi.org/10.1038/ejhg.2012.117