Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

Idiopathic hypogonadotropic hypogonadism (IHH) due to defects of gonadotropin-releasing hormone (GnRH) secretion and/or action is a developmental disorder of sexual maturation. To date, several single-gene defects have been implicated in the pathogenesis of IHH. However, significant inter- and intra...

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Veröffentlicht in:	The Journal of clinical investigation 2007-02, Vol.117 (2), p.457-463
Hauptverfasser:	Pitteloud, Nelly, Quinton, Richard, Pearce, Simon, Raivio, Taneli, Acierno, James, Dwyer, Andrew, Plummer, Lacey, Hughes, Virginia, Seminara, Stephanie, Cheng, Yu-Zhu, Li, Wei-Ping, Maccoll, Gavin, Eliseenkova, Anna V, Olsen, Shaun K, Ibrahimi, Omar A, Hayes, Frances J, Boepple, Paul, Hall, Janet E, Bouloux, Pierre, Mohammadi, Moosa, Crowley, William
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Amino Acid Sequence Base Sequence Biomedical research Conserved Sequence DNA - genetics Female Fibroblast Growth Factor 8 - metabolism Genotype Gonadal disorders Gonadotropin-Releasing Hormone - deficiency Heterozygote Humans Hypogonadism Hypogonadism - etiology Hypogonadism - genetics Hypogonadism - metabolism Kallmann Syndrome - genetics Male Models, Genetic Models, Molecular Molecular Sequence Data Mutation Pedigree Phenotype Receptor, Fibroblast Growth Factor, Type 1 - chemistry Receptor, Fibroblast Growth Factor, Type 1 - genetics Receptor, Fibroblast Growth Factor, Type 1 - metabolism Receptors, LHRH - genetics Sequence Deletion Sequence Homology, Amino Acid Transcription Factors - genetics
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