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
molecular docking
photodynamic therapy
intellectual disability
type diabetes
adipose tissue
insulin resistance
metabolic syndrome
skeletal muscle