- A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss
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Song JS, Bahloul A, Petit C, Kim SJ, Moon IJ, Lee J, Ki CS
- KMID: 2466015
- Ann Lab Med.
- 2020 May;40(3):224-231.
- doi: 10.3343/alm.2020.40.3.224
BACKGROUND: Pathogenic variants of USH1C, encoding a PDZ-domain-containing protein called harmonin, have been known to cause autosomal recessive syndromic or nonsyndromic hearing loss (NSHL). We identified a causative gene in... -
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