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Abdominal paraganglioma in a young woman with 1p36 deletion syndrome.
Murakoshi M, Takasawa K, Nishioka M, Asakawa M, Kashimada K, Yoshimoto T, Yamamoto T, Takekoshi K, Ogawa Y, Shimohira M. Murakoshi M, et al. Among authors: takasawa k. Am J Med Genet A. 2017 Feb;173(2):495-500. doi: 10.1002/ajmg.a.38020. Epub 2016 Oct 24. Am J Med Genet A. 2017. PMID: 27774766
The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice.
Miyado M, Inui M, Igarashi M, Katoh-Fukui Y, Takasawa K, Hakoda A, Kanno J, Kashimada K, Miyado K, Tamano M, Ogata T, Takada S, Fukami M. Miyado M, et al. Among authors: takasawa k. Biol Sex Differ. 2016 Nov 8;7:56. doi: 10.1186/s13293-016-0114-6. eCollection 2016. Biol Sex Differ. 2016. PMID: 27833742 Free PMC article.
181 results