A biallelic variant in POLR2C is associated with congenital hearing loss and male infertility: Case report
Sign Up to like & getrecommendations! Published in 2022 at "European Journal of Clinical Investigation"
DOI: 10.1111/eci.13946
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… read more here.
Keywords: congenital hearing; hearing loss; infertility; biallelic variant ... See more keywords
A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation
Sign Up to like & getrecommendations! Published in 2022 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000200010
Abstract: Objectives Our objective was to identify the genetic cause in a family with a remarkable history of neurodevelopmental disease and growth retardation. Methods A neurologic evaluation was performed, and DNA samples were obtained from the… read more here.
Keywords: biallelic variant; growth; fra10ac1 associated; variant fra10ac1 ... See more keywords