CLN5 in heterozygosis may protect against the development of tumors in a VHL patient
Abstract Von Hippel-Lindau syndrome (VHL) is a rare disease of dominant inheritance that increases susceptibility to tumor development, with a complete penetrance at the age of 60. In this report, we present the unprecedented case of a VHL carrier who remains healthy at 72. Under the course of this...
Main Authors: | Isabel de Rojas-P, Virginia Albiñana, Lucía Recio-Poveda, Amanda Rodriguez-Rufián, Ángel M. Cuesta, Luisa-María Botella |
---|---|
Format: | Article |
Language: | English |
Published: |
BMC
2020-06-01
|
Series: | Orphanet Journal of Rare Diseases |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s13023-020-01410-y |
Similar Items
-
VHL and Hypoxia Signaling: Beyond HIF in Cancer
by: Jing Zhang, et al.
Published: (2018-03-01) -
A study of neuronal ceroid lipofuscinosis proteins CLN5 and CLN8
by: De Silva, Weerakonda Arachchige Bhagya Nilukshi
Published: (2017) -
Growth characteristics and therapeutic decision markers in von Hippel-Lindau disease patients with renal cell carcinoma
by: Patrick Schuhmacher, et al.
Published: (2019-10-01) -
Characterisation of early changes in ovine CLN5 and CLN6 Batten disease neural cultures for the rapid screening of therapeutics
by: Hannah L Best, et al.
Published: (2017-04-01) -
Pathological and Clinical Features and Management of Central Nervous System Hemangioblastomas in von Hippel-Lindau Disease
by: Hiroshi Kanno, et al.
Published: (2014-08-01)