Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism.

Gironi, Laura Cristina; Colombo, Enrico; Brusco, Alfredo; Grosso, Enrico; Naretto, Valeria Giorgia; Guala, Andrea; Di Gregorio, Eleonora; Zonta, Andrea; Zottarelli, Francesca; Pasini, Barbara; Savoia, Paola

Gironi, Laura Cristina; Colombo, Enrico; Brusco, Alfredo; Grosso, Enrico; Naretto, Valeria Giorgia; Guala, Andrea; Di Gregorio, Eleonora; Zonta, Andrea; Zottarelli, Francesca; Pasini, Barbara; Savoia, Paola.

Afiliación

Gironi LC; Department of Health Sciences, Amedeo Avogadro University of Eastern Piedmont, 28100 Novara, Italy. gironi.laura@gmail.com.
Colombo E; Department of Translational Medicine, Amedeo Avogadro University of Eastern Piedmont, 28100 Novara, Italy.
Brusco A; Department of Medical Sciences, University of Turin, 10124 Torino, Italy.
Grosso E; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10124 Torino, Italy.
Naretto VG; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10124 Torino, Italy.
Guala A; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10124 Torino, Italy.
Di Gregorio E; Maternal Infant Department, Castelli Hospital, 28922 Verbania, Italy.
Zonta A; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10124 Torino, Italy.
Zottarelli F; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10124 Torino, Italy.
Pasini B; Department of Health Sciences, Amedeo Avogadro University of Eastern Piedmont, 28100 Novara, Italy.
Savoia P; Department of Medical Sciences, University of Turin, 10124 Torino, Italy.

Medicina (Kaunas) ; 55(7)2019 Jul 07.

Article en En | MEDLINE | ID: mdl-31284637

Asunto(s)

Pérdida Auditiva Sensorineural/genética; Piebaldismo/genética; Femenino; Pérdida Auditiva Sensorineural/fisiopatología; Humanos; Masculino; Persona de Mediana Edad; Piebaldismo/complicaciones; Piebaldismo/fisiopatología; Reacción en Cadena de la Polimerasa/métodos; Gemelos/genética; Adulto Joven

Palabras clave

15q13.3 deletion; KIT; auditory-pigmentary disorders; genetic skin disorders; genodermatoses; multilocus syndrome; neurocristopathies; piebaldism

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Piebaldismo / Pérdida Auditiva Sensorineural Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Medicina (Kaunas) Asunto de la revista: MEDICINA Año: 2019 Tipo del documento: Article País de afiliación: Italia

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