Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

Mutations in KAL1 and FGFR1 cause Kallmann syndrome (KS), whereas mutations in the GNRHR and GPR54 genes cause idiopathic hypogonadotropic hypogonadism with normal olfaction (nIHH). Mixed pedigrees containing both KS and nIHH have also been described; however, the genetic cause of these rare cases i...

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Detalhes bibliográficos
Main Authors: Pitteloud, Nelly, Acierno, James S., Meysing, Astrid, Eliseenkova, Anna V., Ma, Jinghong, Ibrahimi, Omar A., Metzger, Daniel L., Hayes, Frances J., Dwyer, Andrew A., Hughes, Virginia A., Yialamas, Maria, Hall, Janet E., Grant, Ellen, Mohammadi, Moosa, Crowley, William F.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2006
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1458869/
https://ncbi.nlm.nih.gov/pubmed/16606836
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0600962103
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