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A biallelic variant in POLR2C is associated with congenital hearing loss and male infertility: Case report

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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… Click to show full abstract

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.

Keywords: congenital hearing; hearing loss; infertility; biallelic variant

Journal Title: European Journal of Clinical Investigation
Year Published: 2022

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