Article
Abdominal tumors in patients with neurofibromatosis type I: Genotype-phenotype relationships.
European journal of medical genetics - 1 Nov 2022
Matas-Nadal C, Soria X, Gonzalez-Farré M, Baradad M, Tuset N, Rius Riu F, González M, Gatius S, Vilardell F, López-Ortega R, Martí R M
Abstract excerpt
BACKGROUND: Gastrointestinal stromal tumors have been detected in 25% of the necropsies performed on NF1 patients, but have been reported only in 7% of NF1 patients in the largest series. Such data imply an important gap between the true presence of tumors and those diagnosed. Few genotype-phenotype relationships have been described but to date none referring to abdominal tumors. OBJECTIVES: Evaluate...
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