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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...

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Detalles Bibliográficos
Autores principales: Demaliaj, Dardan, Ji, Jianglin, Deardorff, Matthew, Chiarelli, Peter, Tamrazi, Benita, Hawes, Debra, Biegel, Jaclyn, Rosser, Tena, Davidson, Tom, Erdreich-Epstein, Anat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8168269/
http://dx.doi.org/10.1093/neuonc/noab090.177