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Bone marrow failure syndrome 4
- ... particularly myelodysplastic syndrome and acute myeloid leukemia. Ataxia-pancytopenia syndrome appears to be very rare. At least 25 affected individuals from four families have been described in the medical literature. ...
- ... Fujiwara TM, Durie PR, Rommens JM. Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. Am J Hum Genet. 2001 Apr;68(4):1048-54. doi: 10.1086/319505. Epub 2001 ...
- ... IS. Mutations in the telomere capping complex in bone marrow failure and related syndromes. Haematologica. 2013 Mar;98(3):334-8. doi: 10.3324/haematol.2012.071068. Epub 2012 Aug 16. Citation on PubMed or Free article on PubMed ... Epub 2009 Feb 4. Citation on PubMed or Free article on PubMed ...
- ... types of blood cells. For this reason, Pearson syndrome is considered a bone marrow failure disorder. Function of the pancreas and other organs ... Di Cataldo A. Clinical manifestations and management of four children with Pearson syndrome. Am J Med Genet A. 2011 Dec;155A( ...
- ... A. Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome. Br J Dermatol. 2005 Oct;153(4):838-41. doi: 10.1111/j.1365-2133.2005.06828.x. Citation on PubMed
- ... to their sons. FA Fanconi hypoplastic anemia Fanconi pancytopenia Fanconi panmyelopathy ... Auerbach AD. Fanconi anemia and its diagnosis. Mutat Res. 2009 Jul 31;668(1-2):4-10. doi: 10.1016/j.mrfmmm.2009.01. ...
- ... doi: 10.1111/acel.12139. Epub 2013 Sep 4. Citation on PubMed or Free article on PubMed ...