| 1 | HHG, NR0B1
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| Hypogonadotropic hypogonadism in subjects with DAX1 mutations.
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| Jadhav U, Harris RM, Jameson JL.
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| Mol Cell Endocrinol 346(1-2):65-73. Epub 2011 Jun 13. Review.
2011
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| 2 | HHG, NR0B2
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| Hypogonadotropic Hypogonadism in a Female Caused by an X-Linked Recessive Mutation in the DAX1 Gene.
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| Merke DP, Tajima T, Baron J, Cutler GB Jr.
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| N Engl J Med 340(16):1248-1252. No abstract available 1999
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| 3 | AHC, NR0B2, HHG
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| Adrenal hypoplasia congenita with hypogonadotropic hypogonadism. Evidence that DAX-1 mutations lead to combined hypothalamic and pituitary defects in gonadotropin production.
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| Habiby RL, et al.
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| J Clin Invest 98 : 1055-1062. 1996
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| 4 | AHC, NR0B2, HHG
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| Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis.
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| Guo W, et al.
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| Biochem Mol Med 56 : 8-13. 1995
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| 5 | NR0B2, AHC, HHG
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| Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
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| Muscatelli F, et al.
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| Nature 372 : 672-676. 1994
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| 6 | SSDI, CDPX1, HHG, KAL1, STS
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| Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion.
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| Bick D, et al.
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| Am J Med Genet 33 : 100-107. 1989
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| 7 | HHG
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| Molecular Xp deletion in a male: suggestion of a locus for hypogonadotropic hypogonadism distal to the glycerol kinase and adrenal hypoplasia loci.
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| Goonewardena P, et al.
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| Clin Genet 35 : 5-12. 1989
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| 8 | DELXPM,HHG,KAL1,SSDI,STS
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| X-linked ichthyosis, hypogonadotropic hypogonadism, and hyposmia in two male siblings.
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| Fidone GS, et al.
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| Am J Hum Genet 41 : A58. 1987
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