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
Are dogs with congenital hearing and/or vision impairments so different from sensory normal dogs? A survey of demographics, morphology, health, behaviour, communication, and activities
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DOI: 10.1371/journal.pone.0230651
Abstract: The births of domestic dogs with pigment deletion and associated congenital hearing and/or vision impairments are increasing, as a result of mutations of certain genes expressing popular coat colour patterns (Merle, piebald, Irish spotting). The… read more here.
Keywords: vision impairments; sensory normal; hearing vision; congenital hearing ... See more keywords
Genetic and Non-genetic Workup for Pediatric Congenital Hearing Loss
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DOI: 10.3389/fped.2021.536730
Abstract: Hearing loss is one of the most common concerns for presentation for a geneticist. Presentation prior to the age of one (congenital hearing loss), profound sensorineural hearing loss (SNHL), and bilateral hearing loss are sensitive… read more here.
Keywords: hearing loss; genetic non; non genetic; congenital hearing ... See more keywords