Condition: HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA
rs139007744
in
LOC105378519;WDR11
gene and
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA
PMID 20887964
2010 WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
PMID 29263200
2018 WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome.
rs144440500
in
WDR11
gene and
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA
PMID 20887964
2010 WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
PMID 29263200
2018 WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome.