The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms’ tumor. Hum Mut., 13 (1999), pp. 146-153 [22.] B. Kohler, V. Schumacher, D. l'Allemand, B. Royer-Pokora, A. Grüters. [elsevier.es]

• Virilization

  A WNT4 mutation associated with Mullerian-duct regression and virilization in a 46, XX woman. N Engl J Med., 351 (2004), pp. 792-798 [17.] B. Bardoni, E. Zanaria, S. Guioli, G. Floridia, K.C. Worley, G. Tonini, et al. [elsevier.es]

• Short Arm

  Tandem dupl(1p) within the short arm of chromosome 1 in a child with ambiguous genitalia and multiple congenital anomalies. Am J Med Genet., 17 (1984), pp. 723-730 [15.] P. Wieacker, D. Missbach, S. Jakubiczka, S. Borgmann, N. Albrs. [elsevier.es]

• Amenorrhea

  Reporte de una caso / Secondary first amenorrhea a pure gonadal dysgenesis 46XY (Syndrome of Swyer) Report of a case Chang, Sing-Hung; Montvelisky, Herman; Vinocour, Mary. Acta méd. costarric ; 40(3): 50-2, set. 1998. [pesquisa.bvsalud.org]

Mutations of gonadotropins and gonadotropin receptors: elucidating the physiology and pathophysiology of pituitary-gonadal function. Endocr Rev., 21 (2000), pp. 551-583 [32.] F.D. Porter. [elsevier.es]