Condition: HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA


rs137871935 in SEMA3A gene and HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA PMID 22416012 2012 SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development.

PMID 22927827 2012 SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.

PMID 25077900 2014 The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.