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  1. Dyskeratosis Congenita and Related Telomere Biology Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK22301
    ... D, Frohnmayer L, Larsen K, Owen J, eds. Fanconi Anemia: Guidelines for Diagnosis and Management . 3 ed. Fanconi Anemia Research Fund, Inc. Available online . 2008. Accessed 1- ...
  2. Fanconi Anemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1401
    ... Genes and Disorders of Interest in the Differential Diagnosis of Fanconi Anemia View in own window Gene(s) Disorder MOI ... full text ]). Table 5. Recommended Evaluations Following Initial Diagnosis in Individuals with Fanconi Anemia View in own window System/Concern Evaluation Comment ...
  3. Xeroderma Pigmentosum - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1397
    ... ERCC2 ERCC3 Trichothiodystrophy 1 (OMIM PS601675 ) See Differential Diagnosis . ERCC4 Fanconi anemia Heterogeneous condition characterized by physical abnormalities, bone marrow ...
  4. Fanconi anemia 
    https://medlineplus.gov/ency/article/000334.htm
    ... may lead to excess bleeding. Most people with Fanconi anemia have some of these symptoms: Abnormal heart, lungs, and digestive tract Bone problems ( ... head Small testicles and genital changes Other possible symptoms: Failure to thrive Learning disability Low birth weight Intellectual disability
  5. NLM Digital Collections - Drugs against cancer : stories of discovery and the quest for a cure 
    Publication: Bethesda, Maryland : National Cancer Institute, [2022]
    resource.nlm.nih.gov/9918505188606676
    ... lymphocytes during mitosis, became a criterion for the diagnosis of Fanconi anemia. The chromosome breaks and the underlying DNA damage ... solid symbols) (Digweed and Sperling.1996). The clinical diagnosis of Fanconi anemia was often difficult because symptoms among patients was ...
  6. NLM Digital Collections - Hospital literature index (Volume 45) 
    resource.nlm.nih.gov/7807587X32
    ... 1989 Mar-Apr;23(2):87-9 International Fanconi Anemia Registry: relation of clinical symptoms to diepoxybutane sensitivity. Auerbach AD, et al. Blood ... J 1988 Aug; 24(4):244-6 International Fanconi Anemia Registry: relation of clinical symptoms to diepoxybutane sensitivity. Auerbach AD, et al. Blood ...
  7. SALL4-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1373
    ... Genes are ordered by relevance to the differential diagnosis of SALL4 -related disorders. 2. Fanconi anemia (FA) can be inherited in an autosomal recessive ...
  8. Rothmund-Thomson Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1237
    ... is known to occur. 2. See Phenotypic Series: Fanconi Anemia for a list of genes associated with this phenotype in OMIM. Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs ...
  9. Genetics of Skin Cancer (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65895
    ... 170 ] By age 40 years, individuals affected with Fanconi anemia have an 8% risk per year of developing a solid tumor;[ 170 ] the median age of diagnosis for solid tumors is 26 years.[ 171 ] Multiple ...
  10. Childhood Acute Myeloid Leukemia/Other Myeloid Malignancies Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI .... 
    https://www.ncbi.nlm.nih.gov/books/NBK65864
    ... inherited disorders, such as: - Down syndrome. - Aplastic anemia. - Fanconi anemia . - Neurofibromatosis type 1 . - Noonan syndrome . - Shwachman-Diamond syndrome . - Diamond-Blackfan anemia . - Dyskeratosis congenita . - Li-Fraumeni syndrome . Signs and symptoms of childhood acute myeloid leukemia and other myeloid ...
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