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

Stanghellini, I; Genovese, E; Palma, S; Falcinelli, C; Presutti, L; Percesepe, A

Stanghellini, I; Genovese, E; Palma, S; Falcinelli, C; Presutti, L; Percesepe, A.

Afiliación

Stanghellini I; Medical Genetics Unit, Department of Mother & Child, University Hospital of Modena, Modena, Italy.
Genovese E; Audiology Service, Otolaryngology Department, University Hospital of Modena, Modena, Italy.
Palma S; Community Healthcare Services, Otolaryngology Department, Modena, Italy.
Falcinelli C; Medical Genetics Unit, Department of Mother & Child, University Hospital of Modena, Modena, Italy.
Presutti L; Audiology Service, Otolaryngology Department, University Hospital of Modena, Modena, Italy.
Percesepe A; Medical Genetics Unit, Department of Mother & Child, University Hospital of Modena, Modena, Italy.

Acta Otorhinolaryngol Ital ; 37(4): 308-311, 2017 Aug.

Article en En | MEDLINE | ID: mdl-28872160

Asunto(s)

Conexinas/genética; Pérdida Auditiva Sensorineural/genética; Queratodermia Palmoplantar/genética; Mutación; Anciano; Niño; Conexina 26; Femenino; Humanos; Masculino; Persona de Mediana Edad; Linaje; Fenotipo; Adulto Joven

Palabras clave

Gap junction beta-2 protein, human; Hearing Loss; Keratoderma; Palmoplantar; Sensorineural

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Queratodermia Palmoplantar / Conexinas / Pérdida Auditiva Sensorineural / Mutación Tipo de estudio: Prognostic_studies Límite: Adult / Aged / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Acta Otorhinolaryngol Ital Año: 2017 Tipo del documento: Article País de afiliación: Italia

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