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Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant.
Labello JH, Benedetti AFF, Azevedo BV, de Lima Jorge AA, Cescato VAS, Rosemberg S, Frasseto FP, Arnhold IJP, de Carvalho LRS. Labello JH, et al. Among authors: frasseto fp. Arch Endocrinol Metab. 2022 Mar 8;66(1):104-111. doi: 10.20945/2359-3997000000428. Epub 2022 Jan 13. Arch Endocrinol Metab. 2022. PMID: 35029852 Free PMC article.
Intramedullary teratoma.
de Oliveira AJM, Guirado VMP, Yamaki VN, Frasseto FP. de Oliveira AJM, et al. Among authors: frasseto fp. Autops Case Rep. 2019 Sep 18;9(4):e2019105. doi: 10.4322/acr.2019.105. eCollection 2019 Oct-Dec. Autops Case Rep. 2019. PMID: 31641653 Free PMC article. No abstract available.