Article
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.
Molecular and cellular endocrinology - 25 Jul 2006
Pitteloud Nelly, Meysing Astrid, Quinton Richard, Acierno James S, Dwyer Andrew A, Plummer Lacey, Fliers Eric, Boepple Paul, Hayes Frances, Seminara Stephanie, Hughes Viriginia A, Ma Jinghong, Bouloux Pierre, Mohammadi Moosa, Crowley William F
Abstract excerpt
BACKGROUND: Kallmann's syndrome (KS) is a clinically and genetically heterogeneous disorder consisting of idiopathic hypogonadotropic hypogonadism (IHH) and anosmia. Mutations in KAL1 causing the X-linked form of KS have been identified in 10% of all KS patients and consistently result in a sever...
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