The SDHD:p.H102R Variant Is Frequent in Russian Patients with Head and Neck Paragangliomas and Associated with Loss of 11p15.5 Region and Hypermethylation of H19-DMR

Head and neck paragangliomas (HNPGLs) are rare neuroendocrine neoplasms derived from the parasympathetic paraganglia of the head and neck. At least 30% of HNPGLs are linked to germline mutations, predominantly in SDHx genes. In this study, we analyzed an extended cohort of Russian patients with HNPG...

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Detalles Bibliográficos
Autores principales: Snezhkina, Anastasiya, Fedorova, Maria, Kobelyatskaya, Anastasiya, Markova, Daria, Lantsova, Margarita, Ikonnikova, Anna, Emelyanova, Marina, Kalinin, Dmitry, Pudova, Elena, Melnikova, Nataliya, Dmitriev, Alexey, Krasnov, George, Pavlov, Vladislav, Kudryavtseva, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9820527/
https://www.ncbi.nlm.nih.gov/pubmed/36614070
http://dx.doi.org/10.3390/ijms24010628

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