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Complete pathological response to Imatinib mesylate in an extraintestinal gastrointestinal stromal tumor
INTRODUCTION Gastrointestinal stromal tumors (GIST) are the most frequent mesenchymal tumors of the digestive tract. Extraintestinal locations (EGIST) have been described showing similar pattern of immunohistochemical ...
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
(Lippincott Williams & Wilkins, 2016)
OBJECTIVE: To evaluate the phenotypic spectrum associated with mutations in TBC1D24. METHODS: We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported and 37 published patients. TBC1D24 mutations, ...