Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome.
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DOI: 10.1016/j.ajhg.2018.06.010
Abstract: Acephalic spermatozoa syndrome is a severe teratozoospermia that leads to male infertility. Our previous work showed that biallelic SUN5 mutations are responsible for acephalic spermatozoa syndrome in about half of affected individuals, while pathogenic mechanisms… read more here.
Keywords: infertility; acephalic spermatozoa; mutations pmfbp1; spermatozoa syndrome ... See more keywords