Condition: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA


rs137852659 in FGF8 gene and HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA PMID 18596921 2008 Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice.

PMID 23643382 2013 Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

PMID 23533228 2013 Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes.

rs137852663 in LOC105378457;FGF8 gene and HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA PMID 18596921 2008 Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice.

PMID 23643382 2013 Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

rs1555789463 in SEC23B gene and HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA PMID 23453696 2013 Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II.