Del(17)(q24)
Presentation
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]
Pathophysiology
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]