Diamond- Blackfan anemia: etiology, pathophysiol- ogy, and treatment. Am J Pediatr Hematol Oncol 1989;11:380-94.Halperin, D. S. and Freedman, M. H. (1989). Diamond-Blackfan anemia: etiology, pathophysiology, and treatment. Am J Pediatr Hematol Oncol 11, 380-394....
Novel 3q27.2‐qter deletion in a patient with Diamond–Blackfan anemia and immunodeficiency: Case report and review of literature 3q27.2-qter deletion syndromes feature an overlapping set of terminal and interstitial deletions with variable congenital malformations. Diamond鈥揃lackfan... E Alkhunaizi,B...
Diamond-Blackfan anemiaMELASMitochondriaRibosomeRibosomopathiesRibosomopathies are rare congenital disorders associated with defective ribosome biogenesis due to pathogenic variations in genes that encode proteins related to ribosome function and biogenesis. Defects in ribosome biogenesis result in a nucleolar ...