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(Infertility male)
44,793 results
  • From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia. [Journal Article]
  • GMGenet Med 2018 Jun 14
  • Krausz C, Riera-Escamilla A, … Surrallés J
  • CONCLUSIONS: We report an extraordinarily high frequency of FA in a specific subgroup of azoospermic patients (7.1%). The screening for FANCA pathogenic variants in such patients has the potential to identify undiagnosed FA before the appearance of other severe clinical manifestations of the disease. The definition of this high-risk group for "occult" FA, based on specific testis phenotype with mild/borderline hematological alterations, is of unforeseen clinical relevance.
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