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Fanconi anemia, Estren-Dameshek variant

MedGen UID:
341624
•Concept ID:
C1856796
•
Disease or Syndrome
Synonym: Estren-Dameshek variant of Fanconi pancytopenia
 
OMIM®: 227650

Professional guidelines

PubMed

Genotype-phenotype correlations in Fanconi anemia.
Neveling K, Endt D, Hoehn H, Schindler D
Mutat Res 2009 Jul 31;668(1-2):73-91. Epub 2009 May 21 doi: 10.1016/j.mrfmmm.2009.05.006. PMID: 19464302

Curated

Fanconi Anemia Clinical Care Guidelines, Fifth Edition.

Recent clinical studies

Etiology

Genotype-phenotype correlations in Fanconi anemia.
Neveling K, Endt D, Hoehn H, Schindler D
Mutat Res 2009 Jul 31;668(1-2):73-91. Epub 2009 May 21 doi: 10.1016/j.mrfmmm.2009.05.006. PMID: 19464302

Diagnosis

Pancytopenia secondary to primary malignant lymphoma of bone marrow as the first hematologic manifestation of the Estren-Dameshek variant of Fanconi's anemia.
van Niekerk CH, Jordaan C, Badenhorst PN
Am J Pediatr Hematol Oncol 1987 Winter;9(4):344-9. doi: 10.1097/00043426-198724000-00013. PMID: 3439583

Prognosis

Genotype-phenotype correlations in Fanconi anemia.
Neveling K, Endt D, Hoehn H, Schindler D
Mutat Res 2009 Jul 31;668(1-2):73-91. Epub 2009 May 21 doi: 10.1016/j.mrfmmm.2009.05.006. PMID: 19464302

Clinical prediction guides

Genotype-phenotype correlations in Fanconi anemia.
Neveling K, Endt D, Hoehn H, Schindler D
Mutat Res 2009 Jul 31;668(1-2):73-91. Epub 2009 May 21 doi: 10.1016/j.mrfmmm.2009.05.006. PMID: 19464302

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • FARF, 2020
      Fanconi Anemia Clinical Care Guidelines, Fifth Edition.

    Consumer resources

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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