title: The DAX1 mutation in a patient with hypogonadotropic hypogonadism and adrenal hypoplasia congenita causes functional disruption of induction of spermatogenesis.
authors.affiliation: Department of Biology and Pathology of Human Reproduction, Bialystok, Institute of Animal Reproduction and Food Research of Polish Academy of Sciences, Tuwima 10, 10-748, Olsztyn, Poland.
authors.forename: Donata
authors.initials: D
authors.lastname: Ponikwicka-Tyszko
authors.forename: Malgorzata
authors.initials: M
authors.lastname: Kotula-Balak
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Jarzabek
authors.forename: Barbara
authors.initials: B
authors.lastname: Bilinska
authors.forename: Slawomir
authors.initials: S
authors.lastname: Wolczynski
mesh_terms: D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics* / Q000378:metabolism; D000309:Adrenal Insufficiency / Q000235:genetics / Q000378:metabolism; D000328:Adult; D002648:Child; D057137:DAX-1 Orphan Nuclear Receptor / Q000235:genetics* / Q000378:metabolism; D005091:Exons; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007006:Hypogonadism / Q000235:genetics* / Q000378:metabolism; D007150:Immunohistochemistry; D008297:Male; D017354:Point Mutation; D013091:Spermatogenesis
chemical_list: D057137:DAX-1 Orphan Nuclear Receptor; C539965:NR0B1 protein, human