SMARCA4-associated schwannomatosis

被引:4
作者
Chan-Pak-Choon, Fiona [1 ,2 ,3 ]
Roca, Carla [4 ]
Chong, Anne-Sophie [1 ,4 ]
Nogue, Clara [4 ]
Dahlum, Sonja [5 ,6 ]
Austin, Rachel [7 ]
Fan, Helen Mar [7 ]
van Spaendonck-Zwarts, Karin Y. Y. [7 ,8 ]
Lambie, Neil K. K. [9 ]
Robertson, Thomas [10 ]
Siebert, Reiner [5 ,6 ]
Rivera, Barbara [2 ,3 ,4 ,11 ]
Foulkes, William D. D. [1 ,2 ,3 ,11 ,12 ]
机构
[1] McGill Univ, Dept Human Genet, Montreal, PQ, Canada
[2] Jewish Gen Hosp, Lady Davis Inst, Montreal, PQ, Canada
[3] Jewish Gen Hosp, Segal Canc Ctr, Montreal, PQ, Canada
[4] Bellvitge Biomed Res Inst IDIBELL, Mol Mech & Expt Therapy Oncol Program, Barcelona, Spain
[5] Ulm Univ, Inst Human Genet, Ulm, Germany
[6] Ulm Univ, Med Ctr, Ulm, Germany
[7] Royal Brisbane & Womens Hosp, Genet Hlth Queensland, Herston, Qld, Australia
[8] Univ Amsterdam, Dept Human Genet, Med Ctr, Amsterdam, Netherlands
[9] Canterbury Hlth Labs, Anat Pathol, Christchurch, New Zealand
[10] McGill Univ, Gerald Bronfman Dept Oncol, Pathol Queensland, Montreal, PQ, Canada
[11] McGill Univ, Gerald Bronfman Dept Oncol, Montreal, PQ, Canada
[12] McGill Univ, Hlth Ctr, Res Inst, Montreal, PQ, Canada
关键词
Schwannomatosis; SMARCA4; SWI/SNF; BRG1; Chromosome; 22q;
D O I
10.1007/s00401-023-02546-4
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:505 / 507
页数:3
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