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Results 1 - 9 of 9 for Bone marrow failure syndrome 6
  1. Ataxia-pancytopenia syndrome 
    ... D, Papayannopoulou T, Bird TD, Raskind WH. Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. Am J Hum Genet. 2016 Jun 2;98(6):1146-1158. doi: 10.1016/j.ajhg.2016. ...
    https://medlineplus.gov/.../condition/ataxia-pancytopenia-syndrome - Genetics
  2. 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
  3. 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 ... manifestations and management of four children with Pearson syndrome. Am J Med Genet A. 2011 Dec;155A(12):3063-6. doi: 10.1002/ajmg.a.34288. Epub 2011 ...
    https://medlineplus.gov/genetics/condition/pearson-syndrome - Genetics
  4. 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
  5. PGM3-congenital disorder of glycosylation 
    ... Yang L, Fliegauf M, Grimbacher B. Hyper-IgE syndromes: reviewing PGM3 deficiency. Curr Opin Pediatr. 2014 Dec;26(6):697-703. doi: 10.1097/MOP.0000000000000158. Citation ...
    https://medlineplus.gov/...pgm3-congenital-disorder-of-glycosylation - Genetics
  6. Chanarin-Dorfman syndrome 
    ... Curr Opin Neurol. 2008 Oct;21(5):601-6. doi: 10.1097/WCO.0b013e32830dd5a6. Citation on PubMed Cakmak E, Bagci G. Chanarin-Dorfman Syndrome: A comprehensive review. Liver Int. 2021 May;41( ...
    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. Coats plus syndrome 
    ... disease Coats plus. Aging Cell. 2013 Dec;12(6):1100-9. doi: 10.1111/acel.12139. Epub ...
    https://medlineplus.gov/genetics/condition/coats-plus-syndrome - Genetics
  9. Cartilage-hair hypoplasia 
    ... Med Genet A. 2012 Nov;158A(11):2911-6. doi: 10.1002/ajmg.a.35604. Epub 2012 ... hair hypoplasia. Mayo Clin Proc. 2007 Jun;82(6):655. doi: 10.4065/82.6.655. No ...
    https://medlineplus.gov/genetics/condition/cartilage-hair-hypoplasia - Genetics