期刊
PEDIATRIC CLINICS OF NORTH AMERICA
卷 60, 期 6, 页码 1291-+出版社
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.pcl.2013.09.007
关键词
Ribosomopathies; Fanconi anemia; Diamond-Blackfan anemia; Dyseratosis congenita; Shwachman-Diamond; Bone marrow failure; DNA repair; Cancer susceptibility
类别
资金
- NHLBI NIH HHS [R01 HL063776] Funding Source: Medline
Molecular pathogenesis may be elucidated for inherited bone marrow failure syndromes (IBMFS). The study and presentation of the details of their molecular biology and biochemistry is warranted for appropriate diagnosis and management of afflicted patients and to identify the physiology of the normal hematopoiesis and mechanisms of carcinogenesis. Several themes have emerged within each subsection of IBMFS, including the ribosomopathies, which include ribosome assembly and ribosomal RNA processing. The Fanconi anemia pathway has become interdigitated with the familial breast cancer syndromes. In this article, the diseases that account for most IBMFS diagnoses are analyzed.
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