Article
Familial Kallmann syndrome: a novel splice acceptor mutation in the KAL gene.
Human mutation - 1 Jan 1998
O'Neill M J, Tridjaja B, Smith M J, Bell K M, Warne G L, Sinclair A H
Abstract excerpt
Kallmann syndrome is an inherited disease which is characterised by anosmia (inability to smell) and hypogonadotropic hypogonadism both of which are thought to occur as a result of a failure of correct neuronal migration. To date the only genetic lesions identified are mutations in the X-linked gene, KAL. We conducted a mutation screen of the KAL gene in a family with Kallmann syndrome. This identified a new...
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