Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome

Enlarged vestibular aqueduct (EVA) is one of the most commonly identified inner ear malformations in hearing loss patients including Pendred syndrome. While biallelic mutations of the SLC26A4 gene, encoding pendrin, causes non-syndromic hearing loss with EVA or Pendred syndrome, a considerable numbe...

Descripción completa

Detalles Bibliográficos
Autores principales: Li, Mengnan, Nishio, Shin-ya, Naruse, Chie, Riddell, Meghan, Sapski, Sabrina, Katsuno, Tatsuya, Hikita, Takao, Mizapourshafiyi, Fatemeh, Smith, Fiona M., Cooper, Leanne T., Lee, Min Goo, Asano, Masahide, Boettger, Thomas, Krueger, Marcus, Wietelmann, Astrid, Graumann, Johannes, Day, Bryan W., Boyd, Andrew W., Offermanns, Stefan, Kitajiri, Shin-ichiro, Usami, Shin-ichi, Nakayama, Masanori
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7067772/
https://www.ncbi.nlm.nih.gov/pubmed/32165640
http://dx.doi.org/10.1038/s41467-020-15198-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7067772/
https://www.ncbi.nlm.nih.gov/pubmed/32165640
http://dx.doi.org/10.1038/s41467-020-15198-9

Ejemplares similares