A novel succinate dehydrogenase subunit B germline variant associated with head and neck paraganglioma in a Dutch kindred:A family-based study
Objective: In the Netherlands, the majority of hereditary head and neck paragangliomas (HNPGL) are caused by germline variants in the succinate dehydrogenase genes (SDHD, SDHB, SDHAF2). Here, we evaluate a four-generation family linked to a novel SDHB gene variant with the manifestation of a HNPGL. Design: A family-based study. Setting: The VU University Medical Center (VUmc) Amsterdam, a tertiary clinic for Otolaryngology and Head and Neck Surgery. Participants and main outcome measures: The index patients presented with an embryonic rhabdomyosarcoma and a non-Hodgkin lymphoma. Array-based co... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2018 |
Reihe/Periodikum: | de Vos , B , Rijken , J A , Adank , M A , Hoksbergen , A W J , Bayley , J P , Leemans , C R & Hensen , E F 2018 , ' A novel succinate dehydrogenase subunit B germline variant associated with head and neck paraganglioma in a Dutch kindred : A family-based study ' , Clinical Otolaryngology , vol. 43 , no. 3 , pp. 841-845 . https://doi.org/10.1111/coa.13059 |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-27076444 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://research.vumc.nl/en/publications/4d3cd1ed-4fd1-40b0-af75-e38c4d531a9a |