Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients

CDC14A encodes the Cell Division Cycle 14A protein and has been associated with autosomal recessive non-syndromic hearing loss (DFNB32), as well as hearing impairment and infertile male syndrome (HIIMS) since 2016. To date, only nine variants have been associated in patients whose initial symptoms i...

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Publicado en:Int J Mol Sci
Main Authors: Doll, Julia, Kolb, Susanne, Schnapp, Linda, Rad, Aboulfazl, Rüschendorf, Franz, Khan, Imran, Adli, Abolfazl, Hasanzadeh, Atefeh, Liedtke, Daniel, Knaup, Sabine, Hofrichter, Michaela AH, Müller, Tobias, Dittrich, Marcus, Kong, Il-Keun, Kim, Hyung-Goo, Haaf, Thomas, Vona, Barbara
Formato: Artigo
Idioma:Inglês
Publicado: MDPI 2020
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6982189/
https://ncbi.nlm.nih.gov/pubmed/31906439
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21010311
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