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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

Term Hierarchy

GTR
MeSH

Pathological process
- Disease
  - Hereditary disease
    - DNA repair disease
      - Fanconi anemia
        Fanconi anemia complementation group A
        Fanconi anemia, Estren-Dameshek variant

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.

Suggested Reading

Fanconi Anemia Research Fund, Guidelines for Diagnosis and Management (3rd Ed.), 2008 (See 2020 Update)

Recent clinical studies

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

ClinicalTrials.gov

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

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