Abstract:Background: DNA-directed RNA polymerase II subunit 3 (RPB3) is the third largest subunit of RNA polymerase II and is encoded by the POLR2C (OMIM:180663).A large Iranian family with congenital hearing loss and infertility is described here with genetic and clinical characterizations of five male patients. Methods: After doing clinical examinations, the proband was subjected to karyotyping and GJB2/6 sequencing to rule out the most evident chromosomal and gene abnormalities for male infertility and hearing loss,… Show more
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