THE MANY FACES OF SOS1: EXON 20 FRAMESHIFT MUATIONS ARE ASSOCIATED WITH MULTIPLE MUCOSAL NEUROMA SYNDROME- A BENIGN MEN2B PHENOCOPY

Innes A. M.; Eaton A.; van Galen P.

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THE MANY FACES OF SOS1: EXON 20 FRAMESHIFT MUATIONS ARE ASSOCIATED WITH MULTIPLE MUCOSAL NEUROMA SYNDROME- A BENIGN MEN2B PHENOCOPY

机译：SOS1的许多面孔：外显子20框架突变与多种粘膜神经瘤综合征有关 - 一种良性男性2B

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来源
《American journal of medical genetics, Part A》 |2019年第4期|共2页
作者
Innes A. M.; Eaton A.; van Galen P.;
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作者单位

Univ Calgary Dept Med Genet Calgary AB Canada;

Univ Calgary Dept Med Genet Calgary AB Canada;

Univ Calgary Dept Med Genet Calgary AB Canada;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
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1. THE MANY FACES OF SOS1: EXON 20 FRAMESHIFT MUATIONS ARE ASSOCIATED WITH MULTIPLE MUCOSAL NEUROMA SYNDROME- A BENIGN MEN2B PHENOCOPY [J] . Innes A. M., Eaton A., van Galen P. American journal of medical genetics, Part A . 2019,第4期

机译：SOS1的许多面孔：外显子20框架突变与多种粘膜神经瘤综合征有关 - 一种良性男性2B
2. Arytenoid neuromas are a recognized feature of SOS1 mutations causing pure mucosal neuroma syndrome [J] . Leyden Peter J., Morrison Patrick J. Clinical dysmorphology . 2018,第1期

机译：Arytenoid神经瘤是SOS1突变的公认特征，导致纯粘膜神经瘤综合征
3. Generation of a Col9A3 exon 3 skipping mouse as a novel model to phenocopy multiple epiphyseal dysplasia patients [J] . Lecci S., Briggs M. D., Rowan A. D., International Journal of Experimental Pathology . 2017,第3期

机译：生成COL9A3外显子3跳过鼠标作为一种新型模型，以缺陷多种骨骺发育不良患者
4. Mucosal Schwann Cell Hamartoma in Colorectal Mucosa: A Rare Benign Lesion That Resembles Gastrointestinal Neuroma [O] . Jiheun Han, Yosep Chong, Tae-Jung Kim, 2017

机译：大肠黏膜黏膜雪旺细胞瘤瘤：类似于胃肠神经瘤的罕见良性病变
5. Mucosal Schwann Cell Hamartoma in Colorectal Mucosa: A Rare Benign Lesion That Resembles Gastrointestinal Neuroma [O] . Jiheun Han, Yosep Chong, Tae-Jung Kim, 2017

机译：结直肠粘膜中的粘膜雪旺细胞错构瘤：一种类似胃肠道神经瘤的罕见良性病变

THE MANY FACES OF SOS1: EXON 20 FRAMESHIFT MUATIONS ARE ASSOCIATED WITH MULTIPLE MUCOSAL NEUROMA SYNDROME- A BENIGN MEN2B PHENOCOPY

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