Article
X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene.
Proceedings of the National Academy of Sciences of the United States of America - 1 Sept 1992
Hardelin J P, Levilliers J, del Castillo I, Cohen-Salmon M, Legouis R, Blanchard S, Compain S, Bouloux P, Kirk J, Moraine C
Abstract excerpt
Kallmann syndrome represents the association of hypogonadotropic hypogonadism with anosmia. This syndrome is from a defect in the embryonic migratory pathway of gonadotropin-releasing hormone synthesizing neurons and olfactory axons. A candidate gene for the X chromosome-linked form of the syndrome was recently isolated by using a positional cloning strategy based on deletion mapping in the Xp22.3 region. With...
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