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Review
. 2013 Dec;60(6):1291-310.
doi: 10.1016/j.pcl.2013.09.007.

The inherited bone marrow failure syndromes

S Deborah Chirnomas  1 , Gary M Kupfer
Affiliations
Review

The inherited bone marrow failure syndromes

S Deborah Chirnomas et al. Pediatr Clin North Am. 2013 Dec.

Abstract

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.

Keywords: Bone marrow failure; Cancer susceptibility; DNA repair; Diamond-Blackfan anemia; Dyseratosis congenita; Fanconi anemia; Ribosomopathies; Shwachman-Diamond.

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