Further characterisation of the recently described SLC26A4 c.918+2T>C mutation and reporting of a novel variant predicted to be damaging

Pendred syndrome (PS) is the second most common type of autosomal recessive syndromic hearing loss (HL). It is characterised by sensorineural HL and goiter with occasional hypothyroidism. These features are generally accompanied by malformations of the inner ear, as enlarged vestibular aqueduct (EVA...

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Detalles Bibliográficos
Autores principales: Gonçalves, A.C., Santos, R., O'Neill, A., Escada, P., Fialho, G., Caria, H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore SRL 2016
Materias:
Cases Series and Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4977012/
https://www.ncbi.nlm.nih.gov/pubmed/27214836
http://dx.doi.org/10.14639/0392-100X-889

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4977012/
https://www.ncbi.nlm.nih.gov/pubmed/27214836
http://dx.doi.org/10.14639/0392-100X-889

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