[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"bone-marrow-hematopoiesis-failure-multiple-congenital-abnormalities-and-susceptibility-to-neoplastic-diseases\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:bone-marrow-hematopoiesis-failure-multiple-congenital-abnormalities-and-susceptibility-to-neoplastic-diseases":24},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,1,0,[8],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":4,"targetDuration":4,"studyType":19,"phases":4,"briefSummary":20,"conditions":21,"keywords":26,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":30,"lastUpdatePostDateStruct":31,"startDateStruct":4,"completionDateStruct":4,"leadSponsor":34,"locationsCount":5},"100208829","use-massive-parallel-sequencing-and-exome-capture-technology-to-sequence-the-exome-of-fanconi-anemia-children-and-their-patents-100208829",false,"NCT01995305","Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents","Exome Sequencing of Fanconi Anemia Children and the Their Parents","Inclusion Criteria:\n\nAll the children that are diagnosed to be FA patients at the Blood Disease Hospital between 08\u002F01\u002F2010 - 07\u002F31\u002F2011, will be asked to participated in this study after acquiring the consent.\n\nExclusion Criteria:\n\nCan not acquiring content","ALL","1 Month","18 Years","EXPANDED_ACCESS","Fanconi anemia is a rare autosomal or sex linked recessive genetic disease. The disease is characterized by bone marrow hematopoiesis failure, multiple congenital abnormalities, and susceptibility to neoplastic diseases. The cells of FA patients are extremely sensitive to MMC and DEB. The symptoms and ages of FA patients are different, so by comparing the exome of FA patients and their parents, the mutations that were accumulated in FA patients could be found, and these genes might be sensitive to repairment and be important for hematopoiesis maintainance.",[22,23,24,25],"Fanconi Anemia","Autosomal or Sex Linked Recessive Genetic Disease","Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases.","Hematopoiesis Maintainance.",[27,28],"fanconi anemia","hematopoiesis maintainance","AVAILABLE","2013-11-21",{"date":32,"type":33},"2013-11-26","ESTIMATED",{"name":35,"class":36},"Xiaofan Zhu","UNKNOWN"]