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Results 1 - 10 of 15 for Bone marrow failure syndrome 3
  1. 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. ...
    https://medlineplus.gov/genetics/condition/dyskeratosis-congenita - Genetics
  2. Ataxia-pancytopenia syndrome 
    ... 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) ...
    https://medlineplus.gov/.../condition/ataxia-pancytopenia-syndrome - Genetics
  3. 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
  4. 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
  5. 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 ... 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 ...
    https://medlineplus.gov/genetics/condition/pearson-syndrome - Genetics
  6. 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
  7. TERT gene 
    ... transcriptase component of telomerase (TERT) in patients with bone marrow failure. Blood Cells Mol Dis. 2005 May-Jun;34(3):257-63. doi: 10.1016/j.bcmd.2004. ...
    https://medlineplus.gov/genetics/gene/tert - Genetics
  8. 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.2006.03.005. Citation on PubMed Lefevre C, Jobard F, Caux F, ... subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet. 2001 Nov;69(5): ...
    https://medlineplus.gov/genetics/condition/chanarin-dorfman-syndrome - Genetics
  9. PGM3-congenital disorder of glycosylation 
    ... 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: ...
    https://medlineplus.gov/...pgm3-congenital-disorder-of-glycosylation - Genetics
  10. 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
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