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MBCL-46. COMPOUND HETEROZYGOUS MUTATION OF THE PMS2 GENE IN AN INFANT WITH CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY AND MEDULLOBLASTOMA

机译：MBCL-46。患有型致法不匹配缺陷和Medulloblastoma的婴儿中PMS2基因的杂合突变

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作者
Claudia Lukas; Melissa Crenshaw; Ignacio Gonzalez-Gomez; Joseph Potthast; Nir Shimony; George Jallo; Stacie Stapleton;
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年度 2018
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1. Biallelic PMS2 Mutation and Heterozygous DICER1 Mutation Presenting as Constitutional Mismatch Repair Deficiency With Corpus Callosum Agenesis: Case Report and Review of Literature [J] . Cheyuo Cletus, Radwan Walid, Ahn Janice, Journal of pediatric hematology/oncology: Official journal of the American Society of Pediatric Hematology/Oncology . 2017,第7期

机译：双胞胎PMS2突变和杂合子DICER1突变呈递作为胼callosum患者的组织失配修复缺陷：病例报告和文学审查
2. Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD) [J] . N. C. Ramchander, N. A. J. Ryan, E. J. Crosbie, BMC Medical Genetics . 2017,第1期

机译：PMS2错配修复基因的纯合种系突变：体质错配修复缺陷（CMMRD）的独特病例报告。
3. Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD) [J] . N. C. Ramchander, N. A. J. Ryan, E. J. Crosbie, BMC Medical Genetics . 2017,第1期

机译：PMS2错配修复基因的纯合种系突变：体质错配修复缺陷（CMMRD）的独特病例报告。
4. GIy222Isp and Ser379Lys - Nowef Factor X Gene Mutations in sewere FX Deficiency - GreifswaSd Registry of Factor I congenital Deficiency [C] . F. H. Herrmann, K. Wulff, S. Lqpaciuk, Hemophilie-Symposion . 2003

机译：GIY222ISP和SER379LYS - Nutef因子X基因突变在Sewere FX缺陷中 - Greifswasd注册表I先天性缺乏
5. Studies on DNA Replication Repair and Cancer: Insights from Biallelic Mismatch Repair Deficiency Syndrome [D] . Campbell, Brittany Bonfim. 2018

机译：对DNA复制修复和癌症的研究：双层不匹配修复缺陷综合征的见解
6. MBCL-46. COMPOUND HETEROZYGOUS MUTATION OF THE PMS2 GENE IN AN INFANT WITH CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY AND MEDULLOBLASTOMA [O] . Claudia Lukas, Melissa Crenshaw, Ignacio Gonzalez-Gomez, 2018

机译：MBCL-46。组成性配子修复缺陷和髓母细胞瘤的婴儿中PMS2基因的复合杂合突变
7. Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD) [O] . N. C. Ramchander, N. A. J. Ryan, E. J. Crosbie, 2017

机译：PMS2错配修复基因的纯合种系突变：体质错配修复缺陷（CMMRD）的独特病例报告。

MBCL-46. COMPOUND HETEROZYGOUS MUTATION OF THE PMS2 GENE IN AN INFANT WITH CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY AND MEDULLOBLASTOMA

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