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Results 1 - 10 of 11 for Bone marrow failure syndrome 5
  1. TINF2 gene 
    ... cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. Blood. 2008 Nov 1;112(9):3594-600. ...
    https://medlineplus.gov/genetics/gene/tinf2 - Genetics
  2. TERC gene 
    ... TELOMERASE RNA COMPONENT; TERC PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 2; PFBMFT2 NCBI Gene ClinVar Arish ...
    https://medlineplus.gov/genetics/gene/terc - Genetics
  3. Dyskeratosis congenita 
    ... IS. Mutations in the telomere capping complex in bone marrow failure and related syndromes. Haematologica. 2013 Mar;98(3):334-8. doi: ...
    https://medlineplus.gov/genetics/condition/dyskeratosis-congenita - Genetics
  4. Pearson syndrome 
    ... types of blood cells. For this reason, Pearson syndrome is considered a bone marrow failure disorder. Function of the pancreas and other organs ... breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes. PLoS One. 2010 Dec 20;5(12):e15687. doi: 10.1371/journal.pone.0015687. ...
    https://medlineplus.gov/genetics/condition/pearson-syndrome - Genetics
  5. Shwachman-Diamond syndrome 
    ... 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. ...
    https://medlineplus.gov/.../condition/shwachman-diamond-syndrome - Genetics
  6. Chanarin-Dorfman syndrome 
    ... by CGI-58 and defective in Chanarin-Dorfman Syndrome. Cell Metab. 2006 May;3(5):309-19. doi: 10.1016/j.cmet.2006. ... the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet. 2001 Nov;69(5):1002-12. doi: 10.1086/324121. Epub 2001 ...
    https://medlineplus.gov/genetics/condition/chanarin-dorfman-syndrome - Genetics
  7. Waldenström macroglobulinemia 
    ... development, causing a shortage of healthy blood cells ... syndrome. Features related to hyperviscosity syndrome include bleeding in ...
    https://medlineplus.gov/.../condition/waldenstrom-macroglobulinemia - Genetics
  8. TERT gene 
    ... in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. Blood. 2007 Dec ... Epub 2010 Oct 1. Citation on PubMed Tsakiri ...
    https://medlineplus.gov/genetics/gene/tert - Genetics
  9. PGM3-congenital disorder of glycosylation 
    ... all blood cells, resulting in a condition called bone marrow failure. Affected individuals usually also have allergies, asthma, or ... levels. J Allergy Clin Immunol. 2014 May;133(5):1410-9, 1419.e1-13. doi: 10.1016/ ...
    https://medlineplus.gov/...pgm3-congenital-disorder-of-glycosylation - Genetics
  10. UBA1 gene 
    ... Nat Rev Mol Cell Biol. 2009 May;10(5):319-31. doi: 10.1038/nrm2673. Epub 2009 ...
    https://medlineplus.gov/genetics/gene/uba1 - Genetics
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