Discovering a novel genetic variant in 11 family members who had isolated pheochromocytoma linked to von Hippel-Lindau (VHL) syndrome, aligning with the type 2c phenotype

Introduction Von Hippel-Lindau disease (e.g. VHL) is an autosomal dominant multi-organ cancer syndrome caused by a mutation in the VHL tumour suppressor gene. In this study, we introduce a novel genetic variant found in 11 family members diagnosed initially with isolated Pheochromocytoma. Subsequent...

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Prif Awduron:	Hussein Alhawari, Zaina Obeidat, Lina Wahbeh, Ayman Mismar, Nedal Younis, Hanan Jafar, Munther Momani, Nedal Alsabatin, Abdalla Awidi, Hussam Alhawari
Fformat:	Artigo
Iaith:	Inglês
Cyhoeddwyd:	Taylor & Francis Group 2024-12-01
Cyfres:	Blood Pressure
Pynciau:	Hypertension Pheochromocytoma Von Hippel Lindau syndrome Genetic variant Paraganglioma
Mynediad Ar-lein:	https://www.tandfonline.com/doi/10.1080/08037051.2024.2355268
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