ea0027p18 | (1) | BSPED2011
McCabe Mark
, Gregory Louise
, Hu Youli
, Thankamony Ajay
, Hughes Ieuan
, Townshend Sharron
, Bouloux Pierre-Marc
, Dattani Mehul
Introduction: KAL1 is essential for GnRH neuronal migration and olfactory bulb development, and mutations within this gene have been implicated in 5% of Kallmann syndrome (KS) cases, a disorder characterized by the association of hypogonadotrophic hypogonadism with anosmia. It is the only identified X-linked form of the disorder and as a result only KS males had been screened for mutations until recently, when females exhibiting KS phenotypes were screened and subsequen...