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SOX3 duplication in a boy with 46,XX ovotesticular disorder of sex development and his 46,XX sister with atypical genitalia: Probable germline mosaicism.
de Oliveira FM, Barros BA, Dos Santos AP, Campos NLV, Mazzola TN, Filho PL, Andrade LALA, Guaragna MS, de Mello MP, Guerra-Junior G, Vieira TAP, Maciel-Guerra AT. de Oliveira FM, et al. Among authors: campos nlv. Am J Med Genet A. 2023 Feb;191(2):592-598. doi: 10.1002/ajmg.a.63051. Epub 2022 Nov 23. Am J Med Genet A. 2023. PMID: 36416214