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Testicular failure in a patient with G6PC3 deficiency.
Yeshayahu Y, Asaf R, Dubnov-Raz G, Schiby G, Simon AJ, Lev A, Somech R. Yeshayahu Y, et al. Pediatr Res. 2014 Aug;76(2):197-201. doi: 10.1038/pr.2014.64. Epub 2014 May 5. Pediatr Res. 2014. PMID: 24796372
BACKGROUND: Glucose-6-phosphatase-beta (G6PC3) deficiency is characterized by congenital neutropenia and variable developmental disorders, including those of the cardiovascular system and the urogenital system (e.g., cryptorchidism) and a peculiar visibility of subcutaneou …
BACKGROUND: Glucose-6-phosphatase-beta (G6PC3) deficiency is characterized by congenital neutropenia and variable developmental disorders, i …
Similar incidences of TP53 deletions in extramedullary organ infiltrations, soft tissue and osteolyses of patients with multiple myeloma.
Billecke L, Penas EM, May AM, Engelhardt M, Nagler A, Leiba M, Schiby G, Kröger N, Zustin J, Marx A, Matschke J, Tiemann M, Goekkurt E, Bokemeyer C, Schilling G. Billecke L, et al. Anticancer Res. 2012 May;32(5):2031-4. Anticancer Res. 2012. PMID: 22593484
Previous studies suggested a correlation between the clinical course of patients with MM and EM and the cytogenetic findings, e.g. deletion of TP53 on 17p13. MATERIALS AND METHODS: We investigated patients with these rare plasma cell organ infiltrations (n=17) as well as b …
Previous studies suggested a correlation between the clinical course of patients with MM and EM and the cytogenetic findings, e.g. de …