Article
Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.
Human molecular genetics - 1 Apr 1993
Hardelin J P, Levilliers J, Blanchard S, Carel J C, Leutenegger M, Pinard-Bertelletto J P, Bouloux P, Petit C
Abstract excerpt
Kallmann syndrome represents the association of hypogonadotropic hypogonadism with anosmia. Three modes of transmission, X chromosome-linked, autosomal recessive and autosomal dominant, have been described. The KAL gene, responsible for the X-linked form of the disease, has been isolated and its intron-exon organization recently determined. We have searched for mutations of the KAL gene in 21 unrelated males...
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