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

OBJECTIVE: Identification of variations in tumour suppressor genes encoding the tetrameric succinate dehydrogenase (SDHx) mitochondrial enzyme complex may lead to personalised therapeutic concepts for the orphan disease, familial paraganglioma (PGL) type 1‐5. We undertook to determine the causative...

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Detalles Bibliográficos
Autores principales: Koenighofer, Martin, Parzefall, Thomas, Frohne, Alexandra, Frei, Elisabeth, Schoefer, Christian, Laccone, Franco, Feil, Patricia, Frei, Klemens, Lucas, Trevor
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8453574/
https://www.ncbi.nlm.nih.gov/pubmed/33851515
http://dx.doi.org/10.1111/coa.13782

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8453574/
https://www.ncbi.nlm.nih.gov/pubmed/33851515
http://dx.doi.org/10.1111/coa.13782

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