De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

Polymicrogyria is a malformation of cortical development. The aetiology of polymicrogyria remains poorly understood. Using whole-exome sequencing we found de novo heterozygous missense GRIN1 mutations in 2 of 57 parent-offspring trios with polymicrogyria. We found nine further de novo missense GRIN1...

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Detalhes bibliográficos
Main Authors: Fry, AE, Fawcett, KA, Zelnik, N, Yuan, H, Thompson, BAN, Shemer-Meiri, L, Cushion, TD, Mugalaasi, H, Sims, D, Stoodley, N, Chung, S-K, Rees, MI, Patel, CV, Brueton, LA, Layet, V, Giuliano, F, Kerr, MP, Banne, E, Meiner, V, Lerman-Sagie, T, Helbig, KL, Kofman, LH, Knight, KM, Chen, W, Kannan, V, Hu, C, Kusumoto, H, Zhang, J, Swanger, SA, Shaulsky, GH, Mirzaa, GM, Muir, AM, Mefford, HC, Dobyns, WB, Mackenzie, AB, Mullins, JGL, Lemke, JR, Bahi-Buisson, N, Traynelis, SF, Iago, HF, Pilz, DT
Formato: Journal article
Idioma:English
Publicado em: Oxford University Press 2018

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