VHL mutation as a cause of three generations familial pheochromocytoma

VHL mutation as a cause of three generations familial pheochromocytoma

Abstract Background Pheochromocytoma is a rare disease, and its familial occurrence is quite uncommon. The aim of this paper is to report a three-generation phenotypical expression of a case familial occurrence of pheochromocytoma. Case presentation A 25-year-old female, with a history of adrenalect...

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Những tác giả chính: Mari Carmen Moran-Espinosa, Héctor Diaz-García, Rocío Sánchez-Urbina, Javier T. Granados-Riveron, Miriam Deyanira Rodriguez-Piña, Ángeles Leyda Avilés-García, Miguel Ángel Rubio-Leal, Karla Ariadna Martínez-Camacho, Hugo Mendieta-Zeron
Định dạng: Bài viết
Ngôn ngữ:English
Được phát hành: SpringerOpen 2024-06-01
Loạt:Egyptian Journal of Medical Human Genetics
Những chủ đề:
Familial pheochromocytoma
Molecular diagnosis
Sequencing
VHL
Truy cập trực tuyến:https://doi.org/10.1186/s43042-024-00538-x

Internet

https://doi.org/10.1186/s43042-024-00538-x

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