Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants

Sensorineural hearing loss (SNHL) is one of the most common sensory deficits worldwide, and genetic factors contribute to at least 50–60% of the congenital hearing loss cases. The transmembrane channel-like protein 1 (TMC1) gene has been linked to autosomal recessive (DFNB7/11) and autosomal dominan...

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Autores principales: Kraatari-Tiri, Minna, Haanpää, Maria K., Willberg, Tytti, Pohjola, Pia, Keski-Filppula, Riikka, Kuismin, Outi, Moilanen, Jukka S., Häkli, Sanna, Rahikkala, Elisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9000065/
https://www.ncbi.nlm.nih.gov/pubmed/35407445
http://dx.doi.org/10.3390/jcm11071837

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