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RARE-16. A PATIENT WITH MOSAIC POST-ZYGOTIC KRAS-G12D PATHOGENIC VARIANT PRESENTING WITH A SYMPTOMATIC SPINAL NEUROFIBROMA AND LARGE SEGMENTAL TRUNCAL CAFÉ AU LAIT SPOT
An 11 year old boy presented with a three month history of progressive bilateral lower extremity weakness associated with recent intermittent incontinence. Spine MRI showed a right-sided T11-T12 paraspinal mass extending through the neural foramina into the epidural space and causing severe spinal c...
Autores principales: | Demaliaj, Dardan, Ji, Jianglin, Deardorff, Matthew, Chiarelli, Peter, Tamrazi, Benita, Hawes, Debra, Biegel, Jaclyn, Rosser, Tena, Davidson, Tom, Erdreich-Epstein, Anat |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8168269/ http://dx.doi.org/10.1093/neuonc/noab090.177 |
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