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

Fatemeh Bitarafan Ehsan RazmaraEhsan JafariniaNavid AlmadaniMasoud Garshasbi

Published in: European journal of clinical investigation (2023)

Using segregation and in silico analyses, for the first time, we suggested that the NM_032940.3:c.545T>C; p.(Val182Ala) in POLR2C is associated with hearing loss and male infertility.

Keyphrases

hearing loss
case report
polycystic ovary syndrome
intellectual disability
molecular docking
photodynamic therapy
autism spectrum disorder
light emitting