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Genetics in Medicine
Purpose: In about 10% of patients affected by Fanconi Anemia (FA) the diagnosis is delayed until adulthood and the presenting symptom in these "occult" FA is often a solid cancer and cancer-treatment related toxicity. Highly predictive clinical parameter(s) for diagnosing such an adult onset cases are missing. Methods : i) Whole-Exome Sequencing (WES) ii) Sanger sequencing of the FANCA gene; iii) DEB-induced chromosome breakage test. Results: WES identified a pathogenic homozygous FANCA variantdoi:10.1038/s41436-018-0037-1 pmid:29904161 fatcat:jthwixduwjddpjkhtjfkbdcygy