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Results 1 - 10 of 10 for Bone marrow failure syndrome 3
  1. ... 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. ...
  2. ... Kaiser-McCaw B, Baranko PV, Potter NU. Ataxia-pancytopenia: syndrome of cerebellar ataxia, hypoplastic anemia, monosomy 7, and acute myelogenous leukemia. Cancer Genet Cytogenet. 1981 Nov;4(3):189-96. doi: 10.1016/0165-4608(81) ...
  3. ... types of blood cells. For this reason, Pearson syndrome is considered a bone marrow failure disorder. Function of the pancreas and other organs ... disease. J Inherit Metab Dis. 2015 May;38(3):445-57. doi: ... A, Munnich A. Pearson syndrome in the neonatal period: two case reports and ...
  4. ... 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. ...
  5. ... by CGI-58 and defective in Chanarin-Dorfman Syndrome. Cell Metab. 2006 May;3(5):309-19. doi: 10.1016/j.cmet.2006.03.005. Citation on PubMed Lefevre C, Jobard F, Caux F, ... subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet. 2001 Nov;69(5): ...
  6. ... hyper IgE and cognitive impairment Immunodeficiency-vasculitis-myoclonus syndrome PGM3 deficiency PGM3-CDG PGM3-related congenital disorder of glycosylation Phosphoglucomutase 3 deficiency Phosphoglucomutase deficiency type 3 Genetic Testing Registry: ...
  7. ... Am J Hum Genet. 2012 Mar 9;90(3):540-9. doi: 10.1016/j.ajhg.2012.02.002. Epub 2012 Mar 1. Citation on PubMed or Free article on PubMed Central
  8. ... anemia is a condition that is characterized by bone marrow failure, physical differences, organ problems, and an increased risk ... to their sons. FA Fanconi hypoplastic anemia Fanconi pancytopenia Fanconi panmyelopathy Genetic Testing Registry: Fanconi anemia Fanconi ...
  9. ... development, causing a shortage of healthy blood cells ... syndrome. Features related to hyperviscosity syndrome include bleeding in ...
  10. ... Cartilage-hair syndrome CHH McKusick's metaphyseal chondrodysplasia syndrome Metaphyseal chondrodysplasia, McKusick type Metaphyseal chondrodysplasia, ... Ganapathi KA, Shimamura A. Ribosomal dysfunction and inherited marrow failure. Br J Haematol. 2008 May;141(3):376-87. doi: 10.1111/j.1365-2141. ...