| Dyskeratosis congenita. | |
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MedLine Citation:
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PMID: 19327580 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome characterized clinically by the triad of abnormal nails, reticular skin pigmentation, and oral leukoplakia, and is associated with high risk of developing aplastic anemia, myelodysplastic syndrome, leukemia, and solid tumors. Patients have very short germline telomeres, and approximately half have mutations in one of six genes encoding proteins that maintain telomere function. Accurate diagnosis of DC is critical to ensure proper clinical management, because patients who have DC and bone marrow failure do not respond to immunosuppressive therapy and may have increased morbidity and mortality associated with hematopoietic stem cell transplantation. |
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Authors:
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Sharon A Savage; Blanche P Alter |
Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Intramural |
Journal Detail:
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Title: Hematology/oncology clinics of North America Volume: 23 ISSN: 1558-1977 ISO Abbreviation: Hematol. Oncol. Clin. North Am. Publication Date: 2009 Apr |
Date Detail:
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Created Date: 2009-03-30 Completed Date: 2009-05-26 Revised Date: 2010-09-23 |
Medline Journal Info:
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Nlm Unique ID: 8709473 Medline TA: Hematol Oncol Clin North Am Country: United States |
Other Details:
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Languages: eng Pagination: 215-31 Citation Subset: IM |
Affiliation:
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Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, 6120 Executive Boulevard, Rockville, MD 20852, USA. savagesh@mail.nih.gov |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Bone Marrow Diseases
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complications,
therapy Dyskeratosis Congenita / complications*, diagnosis*, genetics, therapy Hematopoietic Stem Cell Transplantation Humans Immunosuppression Telomere / pathology* |
| Grant Support | |
ID/Acronym/Agency:
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Z01 CP010144-09/CP/NCI NIH HHS |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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