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First reported case of alveolar soft part sarcoma in constitutional mismatch repair deficiency syndrome tumor spectrum - diagnosed in one of the siblings with constitutional mismatch repair deficiency

机译：首次报道肺泡软组织肉瘤在体质错配修复缺陷综合征肿瘤谱中的情况 - 在其中一个兄弟姐妹中诊断为体质错配修复缺陷

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Mitul Bipinchandra Modi; Pratik N Patel; Vishal M Modi; Shailee P Mehta; Ramrao G Nilkanthe; Priyesh H Patel; Priti P Trivedi; Dhaval H Jetly;
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1. First reported case of alveolar soft part sarcoma in constitutional mismatch repair deficiency syndrome tumor spectrum - diagnosed in one of the siblings with constitutional mismatch repair deficiency [J] . Mitul Bipinchandra Modi, Pratik N Patel, Vishal M Modi, South Asian Journal of Cancer . 2017,第1期

机译：首次报道肺泡软骨膜肉瘤患者在宪法错配修复缺陷综合征肿瘤谱 - 诊断术中患有宪法不匹配的修复缺陷的兄弟姐妹
2. Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: Report from the constitutional mismatch repair deficiency consortium [J] . BakryD., AronsonM., DurnoC., European journal of cancer: official journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR) . 2014,第5期

机译：体质失配修复缺陷综合症的遗传和临床决定因素：体质失配修复缺陷财团的报告
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. 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
5. 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。
6. 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。

First reported case of alveolar soft part sarcoma in constitutional mismatch repair deficiency syndrome tumor spectrum - diagnosed in one of the siblings with constitutional mismatch repair deficiency

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