| 1 | FGF8, FGFR1, KAL6, NIHH
|
| Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency.
|
| Trarbach EB, Abreu AP, Silveira LF, Garmes HM, Baptista MT, Teles MG, Costa EM, Mohammadi M, Pitteloud N, Mendonca BB, Latronico AC.
|
| J Clin Endocrinol Metab 95(7):3491-6. Epub 2010 May 12.
2010
|
| 2 | FGFR1, NIHH
|
| A mutation in the fibroblast growth factor receptor 1 gene causes fully penetrant normosmic isolated hypogonadotropic hypogonadism.
|
| Xu N, Qin Y, Reindollar RH, Tho SP, McDonough PG, Layman LC.
|
| J Clin Endocrinol Metab 92(3):1155-8. Epub 2007 Jan 2. 2007
|
| 3 | NIHH, FGFR1
|
| Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.
|
| Pitteloud N, Acierno JS Jr, Meysing A, Eliseenkova AV, Ma J, Ibrahimi OA, Metzger DL, Hayes FJ, Dwyer AA, Hughes VA, Yialamas M, Hall JE, Grant E, Mohammadi M, Crowley WF Jr.
|
| Proc Natl Acad Sci U S A 103(16):6281-6. Epub 2006 Apr 10. 2006
|
| 4 | FGFR1, NIHH
|
| Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia.
|
| Trarbach EB, Costa EM, Versiani B, de Castro M, Baptista MT, Garmes HM, de Mendonca BB, Latronico AC.
|
| J Clin Endocrinol Metab 91(10):4006-12. Epub 2006 Aug 1. Erratum in: J Clin Endocrinol Metab. 2008 May;93(5):2013. 2006
|