- ... Scientific Articles on PubMed PubMed References Auerbach AD. Fanconi anemia and its diagnosis. Mutat Res. 2009 Jul 31;668(1-2):4-10. doi: 10.1016/j.mrfmmm.2009.01.013. Epub 2009 Feb 28. Citation on PubMed ... genetic and molecular basis of Fanconi anemia. Mutat Res. 2009 Jul 31;668(1-2): ...
- ... 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- ...
- ... 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 ...
- ... ERCC2 ERCC3 Trichothiodystrophy 1 (OMIM PS601675 ) See Differential Diagnosis . ERCC4 Fanconi anemia Heterogeneous condition characterized by physical abnormalities, bone marrow ...
- ... are darker than the surrounding area. Other possible symptoms of Fanconi anemia include malformed thumbs or forearms and other skeletal ... have biological children (are infertile). Additional signs and symptoms can include ... with Fanconi anemia have an increased risk of developing a cancer ...
- ... 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
- ... Genes are ordered by relevance to the differential diagnosis of SALL4 -related disorders. 2. Fanconi anemia (FA) can be inherited in an autosomal recessive ...
- ... 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 ...
- ... 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 ...
- ... 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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