Llwytho...
von Hippel-Lindau Syndrome: Genetic Study of Case With a Rare Pathogenic Variant With Optic Nerve Hemangioblastoma, a Rare Phenotypic Expression
von Hippel-Lindau syndrome (VHLS) is a rare, autosomal dominant genetic disease with high penetrance and variable phenotypic expression caused by variants in the VHL gene. VHLS is associated with the presence of vascular tumors, often hemangioblastoma of the central nervous system, retina, or spinal...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Front Oncol |
|---|---|
| Prif Awduron: | , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Frontiers Media S.A.
2020
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7033541/ https://ncbi.nlm.nih.gov/pubmed/32117777 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fonc.2020.00139 |
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