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High incidence of occult familial SDHD cases amongst Czech patients with head and neck paragangliomas

IntroductionHead and neck paragangliomas (HNPGLs) are rare neuroendocrine tumors, which are mostly benign in nature. Amongst all genes, Succinate Dehydrogenase Subunit D (SDHD) is the most commonly mutated in familial HNPGLs. In about 30% of HNPGLs, germline mutations in SDHD can also occur in the a...

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Principais autores: Anasuya Guha, Ales Vicha, Tomas Zelinka, Martin Kana, Zdenek Musil, Karel Pacak, Jan Betka, Martin Chovanec, Jan Plzak, Jan Boucek
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2023-12-01
coleção:Frontiers in Endocrinology
Assuntos:
HNPGL
CBPGL
paraganglioma syndrome
germline mutation
SDHD gene
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fendo.2023.1278175/full
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