TY  - JOUR
AU  - Rojas-P., Isabel de
AU  - Albiñana, Virginia
AU  - Recio-Poveda, Lucía
AU  - Rodriguez-Rufián, Amanda
AU  - Cuesta Martínez, Ángel
AU  - Botella, Luisa-María
PY  - 2020
DO  - 10.1186/s13023-020-01410-y
SN  - 1750-1172
UR  - https://hdl.handle.net/20.500.14352/114720
T2  - Orphanet J Rare Dis
AB  - 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...
LA  - eng
PB  - BCM
KW  - Von Hippel-Lindau (VHL)
KW  - Clear cell renal cell carcinoma (ccRCC)
KW  - Endothelial cells (ECs)
KW  - Hemangioblastoma (HB)
KW  - Neuronal Ceroid Lipofuscinosis type 5 (CLN5)
KW  - Rare disease
TI  - CLN5 in heterozygosis may protect against the development of tumors in a VHL patient
TY  - journal article
VL  - 15
ER  -