A novel homozygous missense mutation of PMFBP1 causes acephalic spermatozoa syndrome

ConclusionOur results showed that the novel homozygous missense mutation ofPMFBP1 may be a cause of acephalic spermatozoa syndrome, which provided a basis for genetic counseling for the patient.
Source: Journal of Assisted Reproduction and Genetics - Category: Reproduction Medicine Source Type: research