Incomplete penetrance of a novel SDHD variation causing familial head and neck paraganglioma.

Koenighofer, Martin; Parzefall, Thomas; Frohne, Alexandra; Frei, Elisabeth; Schoefer, Christian; Laccone, Franco; Feil, Patricia; Frei, Klemens; Lucas, Trevor

Koenighofer, Martin; Parzefall, Thomas; Frohne, Alexandra; Frei, Elisabeth; Schoefer, Christian; Laccone, Franco; Feil, Patricia; Frei, Klemens; Lucas, Trevor.

Afiliación

Koenighofer M; Department of Otorhinolaryngology, Head and Neck Surgery, Medical University of Vienna, Vienna, Austria.
Parzefall T; Department of Otorhinolaryngology, Head and Neck Surgery, Medical University of Vienna, Vienna, Austria.
Frohne A; Center of Anatomy and Cell biology, Medical University of Vienna, Vienna, Austria.
Frei E; Center of Anatomy and Cell biology, Medical University of Vienna, Vienna, Austria.
Schoefer C; Center of Anatomy and Cell biology, Medical University of Vienna, Vienna, Austria.
Laccone F; Department of Medical Genetics, Medical University of Vienna, Vienna, Austria.
Feil P; Department of Pediatric Surgery, Medical University of Vienna, Vienna, Austria.
Frei K; Department of Otorhinolaryngology, Head and Neck Surgery, Medical University of Vienna, Vienna, Austria.
Lucas T; Center of Anatomy and Cell biology, Medical University of Vienna, Vienna, Austria.

Clin Otolaryngol ; 46(5): 1044-1049, 2021 09.

Article en En | MEDLINE | ID: mdl-33851515

Asunto(s)

Neoplasias de Cabeza y Cuello/genética; Paraganglioma/genética; Succinato Deshidrogenasa/genética; Adulto; Edad de Inicio; Anciano de 80 o más Años; Austria; Exones; Femenino; Mutación del Sistema de Lectura; Pruebas Genéticas; Neoplasias de Cabeza y Cuello/diagnóstico por imagen; Humanos; Imagen por Resonancia Magnética; Masculino; Persona de Mediana Edad; Paraganglioma/diagnóstico por imagen; Linaje; Penetrancia; Fenotipo; Estudios Prospectivos; Adulto Joven

Palabras clave

familial 1; frameshift variation; head and neck neoplasms; orphan diseases; paragangliomas; paternal inheritance; succinate dehydrogenase

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Paraganglioma / Succinato Deshidrogenasa / Neoplasias de Cabeza y Cuello Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Aged80 / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Clin Otolaryngol Asunto de la revista: OTORRINOLARINGOLOGIA Año: 2021 Tipo del documento: Article País de afiliación: Austria

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