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Quoted phrase not found in phrase index: "Hearing loss, autosomal dominant 83"
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Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype.
Li J, Xu H, Sun J, Tian Y, Liu D, Qin Y, Liu H, Li R, Neng L, Deng X, Xue B, Yu C, Tang W. Li J, et al. Biomed Res Int. 2021 Mar 4;2021:6624744. doi: 10.1155/2021/6624744. eCollection 2021. Biomed Res Int. 2021. PMID: 34258273 Free PMC article.
OBJECTIVE: Genetic variants in the WFS1 gene can cause Wolfram syndrome (WS) or autosomal dominant nonsyndromic low-frequency hearing loss (HL). This study is aimed at investigating the molecular basis of HL in an affected Chinese family and the genoty …
OBJECTIVE: Genetic variants in the WFS1 gene can cause Wolfram syndrome (WS) or autosomal dominant nonsyndromic low-frequency …
High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL).
Minárik G, Ferák V, Feráková E, Ficek A, Poláková H, Kádasi L. Minárik G, et al. Gen Physiol Biophys. 2003 Dec;22(4):549-56. Gen Physiol Biophys. 2003. PMID: 15113126 Free article. Clinical Trial.
Mutations in the GJB2 gene (connexin 26) represent a major cause of autosomal recessive non-syndromic hearing loss (NSHL) worldwide. In most Caucasian populations, the 35delG mutation in this gene was found to account for up to 50% of cases of the genetic non …
Mutations in the GJB2 gene (connexin 26) represent a major cause of autosomal recessive non-syndromic hearing loss (NSH …