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.