Mutation c.943GT (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family

Luitgard M. Graul-Neumann; Eva Klopocki; Nicolai Adolphs; Martin A. Mensah; Wolfram Kress

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Mutation c.943GT (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family

机译：FGFR2中的c.943G> T突变（p.Ala315Ser）导致三代家族的克鲁祖颅面发育不良的表型轻化

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来源
《Molecular syndromology》 |2017年第97期|共页
作者
Luitgard M. Graul-Neumann; Eva Klopocki; Nicolai Adolphs; Martin A. Mensah; Wolfram Kress;
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中图分类基础医学;
关键词
CraniosynostosisemFGFR2/emMidface hypoplasiaObstructive sleep apnea;

机译：颅骨前突em FGFR2 / em中脸发育不全阻塞性睡眠呼吸暂停;

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1. Mutation c.943GT (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family [J] . Luitgard M. Graul-Neumann, Eva Klopocki, Nicolai Adolphs, Molecular syndromology . 2017,第93a97期

机译：FGFR2中的c.943G> T突变（p.Ala315Ser）导致三代家族的克鲁祖颅面发育不良的表型轻化
2. Clinically mild, atypical, and aged craniofacial syndrome is diagnosed as Crouzon syndrome by identification of a point mutation in the fibroblast growth factor receptor 2 gene (FGFR2). [J] . Maeda T, Hatakenaka M, Muta H, Internal medicine. . 2004,第5期

机译：通过鉴定成纤维细胞生长因子受体2基因（FGFR2）的点突变，可将临床上轻度，非典型和老年的颅面部综合征诊断为Crouzon综合征。
3. Computational mouse atlases and their application to automatic assessment of craniofacial dysmorphology caused by the Crouzon mutation Fgfr2(C342Y). [J] . Olafsdottir H, Darvann TA, Hermann NV, Journal of Anatomy . 2007,第1期

机译：计算性小鼠地图集及其在Crouzon突变Fgfr2（C342Y）引起的颅面畸形自动评估中的应用。
4. Extending Mendelian mutation prediction models that predict if one has a disease-causing mutation based on family history of disease. [D] . Katki, Hormuzd A. 2006

机译：扩展孟德尔突变预测模型，该模型可根据疾病家族史预测是否存在致病突变。
5. Mutation c.943GT (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family [O] . Luitgard M. Graul-Neumann, Eva Klopocki, Nicolai Adolphs, 2017

机译：FGFR2中的c.943G T突变（p.Ala315Ser）导致三代家庭的克鲁祖颅面部发育不良的表型轻微
6. A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly. [O] . Steinberger, D, Collmann, H, Schmalenberger, B, 1997

机译：克鲁氏表型和斜头畸形家庭中FGFR2基因第5外显子的新突变（a886g）。

Mutation c.943GT (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family

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