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Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions

机译：Sotos综合征和NSD1单倍功能不全：基因内突变和亚显微缺失的临床特征

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Nagai, T; Matsumoto, N; Kurotaki, N; Harada, N; Niikawa, N; Ogata, T; Imaizumi, K; Kurosawa, K; Kondoh, T; Ohashi, H; Tsukahara, M; Makita, Y; Sugimoto, T; Sonoda, T; Yokoyama, T; Uetake, K; Sakazume, S; Fukushima, Y; Naritomi, K;
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年度 2003
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专利

1. Craniofacial and Oral Features of Sotos Syndrome:Differences in Patients With Submicroscopic Deletion and Mutation of NSD1 Gene [J] . Norimitsu Hirai, Kensuke Matsune, and Hirofumi Ohashi American journal of medical genetics, Part A . 2011,第12期

机译：Sotos综合征的颅面和口腔特征：亚显微缺失和NSD1基因突变患者的差异
2. Mutations in NSD1 and NFIX in Three Patients with Clinical Features of Sotos Syndrome and Malan Syndrome [J] . Yongping Lu, Pin Fee Chong, Ryutaro Kira, Journal of pediatric genetics . 2017,第4期

机译：在SOTOS综合征和玛拉综合征的临床特征中NSD1和NFIX中的突变
3. Novel clinical findings in the first Egyptian case of Sotos syndrome caused by complete deletion of the NSD1 NSD1 gene [J] . Abdalla Ebtesam, Bartsch Oliver, Galetzka Danuta, American journal of medical genetics, Part A . 2017,第4期

机译：通过完全删除NSD1 NSD1基因的Sotos综合征第一埃及案例的新临床发现
4. The long QT syndrome: a clinical counterpart of hERG mutations [C] . Peter J. Schwartz symposium on The hERG cardiac potassium channel: structure, function, and long QT syndrome . 2005

机译：长QT综合征：HERG突变的临床对应物
5. BRAF mutation and CDKN2A deletion define a clinically distinct subgroup of childhood secondary high-grade glioma [D] . Mistry, Matthew R. 2014

机译：BRAF突变和CDKN2A缺失定义了儿童继发性高级神经胶质瘤的临床不同亚组
6. Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions [O] . T Nagai, N Matsumoto, N Kurotaki, 2003

机译：Sotos综合征和NSD1单倍功能不全：基因内突变和亚显微缺失的临床特征
7. Mutations in NSD1 and NFIX in Three Patients with Clinical Features of Sotos Syndrome and Malan Syndrome [O] . Yongping Lu, Pin Chong, Ryutaro Kira, 2017

机译：三个患者中NSD1和NFIX的突变在SOTOS综合征和麦根综合征的临床特征中

Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions

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