PKHD1L1, A Gene Involved in the Stereociliary Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss

Identification of genes associated with nonsyndromic hearing loss is a crucial endeavor, given the substantial number of individuals who remain without a diagnosis after even the most advanced genetic testing. PKHD1L1 was established as necessary for the formation of the cochlear hair-cell stereocil...

Descripción completa

Detalles Bibliográficos
Autores principales: Redfield, Shelby E., De-la-Torre, Pedro, Zamani, Mina, Khan, Hina, Morris, Tyler, Shariati, Gholamreza, Karimi, Majid, Kenna, Margaret A., Seo, Go Hun, Naz, Sadaf, Galehdari, Hamid, Indzhykulian, Artur A., Shearer, A. Eliot, Vona, Barbara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10593026/
https://www.ncbi.nlm.nih.gov/pubmed/37873491
http://dx.doi.org/10.1101/2023.10.08.23296081

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10593026/
https://www.ncbi.nlm.nih.gov/pubmed/37873491
http://dx.doi.org/10.1101/2023.10.08.23296081

Ejemplares similares