A mild phenotype of sensorineural hearing loss and palmoplantar keratoderma caused by a novel GJB2 dominant mutation

Dominant GJB2 mutations are known to cause a syndromic form of sensorineural hearing loss associated with palmo-plantar skin manifestations. We present the genotype/phenotype correlations of a new GJB2 mutation identified in three generations of an Italian family (proband, mother and grandfather) wh...

Descripción completa

Detalles Bibliográficos
Autores principales: Stanghellini, I., Genovese, E., Palma, S., Falcinelli, C., Presutti, L., Percesepe, A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore SRL 2017
Materias:
Audiology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5584103/
https://www.ncbi.nlm.nih.gov/pubmed/28872160
http://dx.doi.org/10.14639/0392-100X-1382

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5584103/
https://www.ncbi.nlm.nih.gov/pubmed/28872160
http://dx.doi.org/10.14639/0392-100X-1382

Ejemplares similares