From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia
Abstract
In about 10% of patients affected by Fanconi anemia (FA) the diagnosis is delayed until adulthood, and the presenting symptom in these "occult" FA cases is often a solid cancer and cancer treatment-related toxicity. Highly predictive clinical parameter(s) for diagnosing such an adult-onset cases are missing.(1) Exome sequencing (ES), (2) Sanger sequencing of FANCA, (3) diepoxybutane (DEB)-induced chromosome breakage test.ES identified a...
Paper Details
Title
From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia
Published Date
Jan 1, 2019
Journal
Volume
21
Issue
1
Pages
189 - 194
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