| 1 | HHGTR, TACR3
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| Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism.
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| Kim JH, Seo GH, Kim GH, Huh J, Hwang IT, Jang JH, Yoo HW, Choi JH.
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| Exp Clin Endocrinol Diabetes xp Clin Endocrinol Diabetes. 2018 Sep 14. doi: 10.1055/a-0681-6608. [Epub ahead of print]
2018
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| 2 | HHGTR, TACR3
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| Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations.
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| Francou B, Bouligand J, Voican A, Amazit L, Trabado S, Fagart J, Meduri G, Brailly-Tabard S, Chanson P, Lecomte P, Guiochon-Mantel A, Young J.
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| PLoS One 6(10):e25614. doi: 10.1371/journal.pone.0025614. Epub 2011 Oct 21.
2011
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| 3 | HHGT, HHGTR, TAC3, TACR3
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| TAC3 and TACR3 defects cause hypothalamic congenital hypogonadotropic hypogonadism in humans.
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| Young J, Bouligand J, Francou B, Raffin-Sanson ML, Gaillez S, Jeanpierre M, Grynberg M, Kamenicky P, Chanson P, Brailly-Tabard S, Guiochon-Mantel A.
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| J Clin Endocrinol Metab 95(5):2287-95. Epub 2010 Mar 1.PMID: 20194706 2010
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| 4 | HHGT, HHGTR, TAC3, TACR3
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| TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction.
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| Topaloglu AK, Reimann F, Guclu M, Yalin AS, Kotan LD, Porter KM, Serin A, Mungan NO, Cook JR, Ozbek MN, Imamoglu S, Akalin NS, Yuksel B, O'Rahilly S, Semple RK.
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| Nat Genet 41(3):354-8. Epub 2008 Dec 11. 2009
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| 5 | HHGTR, TACR3
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| Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.
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| Guran T, Tolhurst G, Bereket A, Rocha N, Porter K, Turan S, Gribble FM, Kotan LD, Akcay T, Atay Z, Canan H, Serin A, O'Rahilly S, Reimann F, Semple RK, Topaloglu AK.
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| J Clin Endocrinol Metab 94(10):3633-9. Epub 2009 Sep 15.PMID: 19755480 2009
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