Article
Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.
Proceedings of the National Academy of Sciences of the United States of America - 18 Apr 2006
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
Abstract excerpt
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 is unknown. We examined the FGFR1 gene in seven nIHH subjects who either belonged to a mixed pedigree (n = 5) or who...
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