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...

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Bibliografiska uppgifter
I publikationen:Acta Otorhinolaryngol Ital
Huvudupphovsmän: Stanghellini, I., Genovese, E., Palma, S., Falcinelli, C., Presutti, L., Percesepe, A.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Pacini Editore SRL 2017
Ämnen:
Audiology
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5584103/
https://ncbi.nlm.nih.gov/pubmed/28872160
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.14639/0392-100X-1382
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