- ... agreed upon at a 2013 consensus conference (see Fanconi Anemia: Guidelines for Diagnosis and Management ). Suggestive Findings Fanconi anemia (FA) should ... alternative cell type, such as skin fibroblasts. See Fanconi Anemia: Guidelines for Diagnosis and ... of biallelic pathogenic variants in ...
- ... 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): ...
- ... c.1089C>A pathogenic variant have features of Fanconi anemia [ Gennery et al 2004 ]. Differential Diagnosis Microcephaly, growth delay, immunodeficiency, and/or 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
- ... Paroxysmal nocturnal hemoglobinuria (PNH) (OMIM 300818 ) Dyskeratosis congenita Fanconi anemia Shwachman-Diamond syndrome Management Evaluations Following Initial Diagnosis Urgent referral to an oncologist for evaluation of ...
- ... Disorder Gene(s) MOI Clinical Features of Differential Diagnosis Disorder Overlapping w/Warsaw syndrome Distinguishing from Warsaw syndrome Fanconi anemia 21 genes 1 AR AD XL Microcephaly Short ...
- ... changes, such as the one that can cause Fanconi anemia Toxic substances, such as ... are the symptoms of aplastic anemia? Aplastic anemia can develop suddenly ...
- ... s) / Genetic Mechanism MOI Clinical Features of Differential Diagnosis Disorder Distinguishing It from HFGS Thumb hypoplasia, often in addition to other anomalies Fanconi anemia 21 genes AR AD XL Bone marrow failure ↑ ...
- ... Most mutations in the FANCG gene that cause Fanconi anemia lead to absent or reduced protein function. Individuals who have mutations that lead to no protein production typically have more severe signs or symptoms than people who have mutations that allow for ...
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