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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease tuberous sclerosis
Symptom C0017525|giant cell tumor
Sentences 2
PubMedID- 24491584 Natural history and ct scan follow-up of subependymal giant cell tumors in tuberous sclerosis complex patients.
PubMedID- 25002765 Each neoplasm contained cells that were immunoreactive for syn and/or nfps, gfap, and occasionally for both gfap and either nfp or syn, and concluded that abortive neuronal/neuroendocrine differentiation may occur in pxas, suggesting a relationship between pxa and other developmental neoplasms that reveal a more overt neuronal phenotype, such as ganglioglioma, dysembryoplastic neuroepithelial tumor, and desmoplastic ganglioglioma, and with tumors expressing ambiguous glial/neuronal lineage, such as the subependymal giant cell tumor of tuberous sclerosis.

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