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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6982189/
https://www.ncbi.nlm.nih.gov/pubmed/31906439
http://dx.doi.org/10.3390/ijms21010311

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6982189/
https://www.ncbi.nlm.nih.gov/pubmed/31906439
http://dx.doi.org/10.3390/ijms21010311

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