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Familial short stature is associated with a novel dominant-negative heterozygous insulin-like growth factor 1 receptor (IGF1R) mutation.
Kawashima Y, Hakuno F, Okada S, Hotsubo T, Kinoshita T, Fujimoto M, Nishimura R, Fukushima T, Hanaki K, Takahashi S, Kanzaki S. Kawashima Y, et al. Among authors: fujimoto m. Clin Endocrinol (Oxf). 2014 Aug;81(2):312-4. doi: 10.1111/cen.12317. Epub 2013 Sep 30. Clin Endocrinol (Oxf). 2014. PMID: 24033502 No abstract available.
Castleman disease in a child with short stature.
Hanada T, Okuno K, Okada S, Fujimoto M, Kuranobu H, Hashida Y, Ueyama J, Murakami J, Hayashi A, Hanaki K, Kanzaki S. Hanada T, et al. Among authors: fujimoto m. Pediatr Int. 2012 Oct;54(5):720-4. doi: 10.1111/j.1442-200X.2012.03589.x. Pediatr Int. 2012. PMID: 23005908
A novel frameshift mutation in NR3C2 leads to decreased expression of mineralocorticoid receptor: a family with renal pseudohypoaldosteronism type 1.
Kawashima Sonoyama Y, Tajima T, Fujimoto M, Hasegawa A, Miyahara N, Nishimura R, Hashida Y, Hayashi A, Hanaki K, Kanzaki S. Kawashima Sonoyama Y, et al. Among authors: fujimoto m. Endocr J. 2017 Jan 30;64(1):83-90. doi: 10.1507/endocrj.EJ16-0280. Epub 2016 Oct 5. Endocr J. 2017. PMID: 27725360 Free article.
2,526 results