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Results 1 - 10 of 13 for Bone marrow failure syndrome 4
  1. Ataxia-pancytopenia syndrome 
    ... 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. ...
    https://medlineplus.gov/.../condition/ataxia-pancytopenia-syndrome - Genetics
  2. 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. Am J Hum Genet. 2001 Apr;68(4):1048-54. doi: 10.1086/319505. Epub 2001 ...
    https://medlineplus.gov/.../condition/shwachman-diamond-syndrome - Genetics
  3. TINF2 gene 
    ... 1365-2141.2009.07598.x. Epub 2009 Feb 4. Citation on PubMed or Free article on ... and related bone marrow failure syndromes. Blood. 2008 Nov 1;112(9):3594-600. ...
    https://medlineplus.gov/genetics/gene/tinf2 - Genetics
  4. SAMD9L gene 
    ... about the protein's function there. At least four inherited mutations in the SAMD9L gene have been found to cause ataxia-pancytopenia syndrome, a rare condition that affects the cerebellum and ...
    https://medlineplus.gov/genetics/gene/samd9l - Genetics
  5. 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
  6. Dyskeratosis congenita 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/dyskeratosis-congenita - Genetics
  7. 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 ... Di Cataldo A. Clinical manifestations and management of four children with Pearson syndrome. Am J Med Genet A. 2011 Dec;155A( ...
    https://medlineplus.gov/genetics/condition/pearson-syndrome - Genetics
  8. Chanarin-Dorfman syndrome 
    ... 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
    https://medlineplus.gov/genetics/condition/chanarin-dorfman-syndrome - Genetics
  9. GATA1 gene 
    ... megakaryocyte precursor cells in the blood, liver, and bone marrow. In ... (hydrops fetalis), and heart failure.It is estimated that 20 to 30 percent ...
    https://medlineplus.gov/genetics/gene/gata1 - Genetics
  10. TERT gene 
    ... in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. Blood. 2007 Dec 15;110(13):4198-205. doi: 10.1182/blood-2006-12-062851. Epub 2007 Sep 4. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/tert - Genetics
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