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Kallmann's syndrome, a neuronal migration defect.
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The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons.
Hum Mol Genet. 2004 Nov 15;13(22):2781-91. doi: 10.1093/hmg/ddh309. Epub 2004 Oct 7.
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Molecular pathogenesis of Kallmann's syndrome.
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Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.
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Kallmann's syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1/KAL2 mutations.
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[GnRH deficiency: new insights from genetics].
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The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.
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Kallmann's syndrome with a novel missense mutation in the KAL1 gene that modifies the major cell adhesion site of the anosmin-1 protein.
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Kallmann syndrome: fibroblast growth factor signaling insufficiency?
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