Publications by authors named "Beata S Winiarska"
Am J Med Genet A
July 2018
Article Synopsis
- Ocular albinism type 1 (OA1) is linked to mutations in the GPR143 gene, affecting eye color and vision, with additional reports of late-onset hearing loss in some patients.
- A family study revealed an interstitial microdeletion on the X chromosome that includes not only GPR143 but also genes like TBL1X and SHROOM2, which might connect to infertility and hearing issues.
- The research suggests a potential link between the absence of TBL1X and hearing loss but emphasizes that more evidence is needed to confirm this and the relationship between the genetic deletion and male infertility.
