ADCY10 frameshift variant leading to severe recessive asthenozoospermia and segregating with absorptive hypercalciuria.
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DOI: 10.1093/humrep/dez048
Abstract: STUDY QUESTION Can whole exome sequencing (WES) reveal a novel pathogenic variant in asthenozoospermia in a multiplex family including multiple patients? SUMMARY ANSWER Patients were discovered to be homozygous for a rare 2-bp deletion in… read more here.
Keywords: absorptive hypercalciuria; variant; study; sperm ... See more keywords