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Results 1 - 10 of 14 for Bone marrow failure syndrome 1
  1. TINF2 gene 
    ... cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. Blood. 2008 Nov 1;112(9):3594-600. doi: 10.1182/blood- ...
    https://medlineplus.gov/genetics/gene/tinf2 - Genetics
  2. Ataxia-pancytopenia syndrome 
    ... syndrome National Organization for Rare Disorders (NORD) ATAXIA-PANCYTOPENIA SYNDROME; ATXPC MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 1; M7MLS1 PubMed Chen DH, Below JE, Shimamura A, ...
    https://medlineplus.gov/.../condition/ataxia-pancytopenia-syndrome - Genetics
  3. Shwachman-Diamond syndrome 
    ... causes Shwachman-Diamond syndrome. Genes Dev. 2011 May 1;25(9):917-29. doi: ... and bone marrow failure maps to the centromeric region of chromosome 7. ...
    https://medlineplus.gov/.../condition/shwachman-diamond-syndrome - 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. 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
  6. 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 ... many genes essential for normal mitochondrial function. Pearson syndrome is ... which can range from 1,000 to 10,000 DNA building blocks (nucleotides). ...
    https://medlineplus.gov/genetics/condition/pearson-syndrome - Genetics
  7. GATA1 gene 
    ... GATA1 Tests of GATA1 PubMed GATA-BINDING PROTEIN 1; GATA1 DOWN SYNDROME NCBI Gene ClinVar Cabelof DC, Patel HV, Chen ... provides insights into mutagenesis and leukemogenesis in Down syndrome. Blood. 2009 ... Semin Cell Dev Biol. 2005 Feb;16(1):137-47. doi: 10.1016/j.semcdb.2004. ...
    https://medlineplus.gov/genetics/gene/gata1 - Genetics
  8. Coats plus syndrome 
    ... Majerska J, Lingner J. Molecular basis of telomere syndrome caused by CTC1 mutations. Genes Dev. 2013 Oct 1;27(19):2099-108. doi: 10.1101/gad. ... j.ajhg.2012.02.002. Epub 2012 Mar 1. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/genetics/condition/coats-plus-syndrome - Genetics
  9. TERT gene 
    ... Natl Acad Sci U S A. 2007 May 1;104(18):7552-7. doi: 10.1073/pnas.0701009104. ... in patients with bone marrow failure. Blood Cells Mol Dis. 2005 May-Jun;34( ...
    https://medlineplus.gov/genetics/gene/tert - Genetics
  10. PGM3-congenital disorder of glycosylation 
    ... PGM3 deficiency Deficiency of N-acetylglucosamine-phosphate mutase 1 Deficiency of phosphoglucomutase 3 Immunodeficiency 23 Immunodeficiency with hyper IgE and cognitive impairment Immunodeficiency-vasculitis-myoclonus syndrome PGM3 deficiency PGM3-CDG PGM3-related congenital disorder ...
    https://medlineplus.gov/...pgm3-congenital-disorder-of-glycosylation - Genetics
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