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 , SDHAF 2). 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 ( VU mc) 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‐bas... Mehr ...

Verfasser: de Vos, B.
Rijken, J.A.
Adank, M.A.
Hoksbergen, A.W.J.
Bayley, J.P.
Leemans, C.R.
Hensen, E.F.
Dokumenttyp: Artikel
Erscheinungsdatum: 2018
Reihe/Periodikum: Clinical Otolaryngology ; volume 43, issue 3, page 841-845 ; ISSN 1749-4478 1749-4486
Verlag/Hrsg.: Wiley
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-29051197
Datenquelle: BASE; Originalkatalog
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Link(s) : http://dx.doi.org/10.1111/coa.13059