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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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Hoofdauteurs: Hussein Alhawari, Zaina Obeidat, Lina Wahbeh, Ayman Mismar, Nedal Younis, Hanan Jafar, Munther Momani, Nedal Alsabatin, Abdalla Awidi, Hussam Alhawari
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Taylor & Francis Group 2024-12-01
Reeks:Blood Pressure
Onderwerpen:
Hypertension
Pheochromocytoma
Von Hippel Lindau syndrome
Genetic variant
Paraganglioma
Online toegang:https://www.tandfonline.com/doi/10.1080/08037051.2024.2355268
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