title: Congenital adrenal hypoplasia and hypogonadotropic hypogonadism: phenotypic variability of the DAX-1 gene R267P mutation.
authors.forename: Myriam
authors.initials: M
authors.lastname: Sánchez-Pacheco
authors.forename: Oscar
authors.initials: O
authors.lastname: Moreno-Pérez
authors.forename: Ruth
authors.initials: R
authors.lastname: Sánchez-Ortiga
authors.forename: Antonio
authors.initials: A
authors.lastname: Picó
authors.forename: Francisca
authors.initials: F
authors.lastname: Moreno
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D000309:Adrenal Insufficiency; D057137:DAX-1 Orphan Nuclear Receptor / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D000075262:Hypoadrenocorticism, Familial; D007006:Hypogonadism / Q000235:genetics*; D007223:Infant; D008297:Male; D009154:Mutation; D010641:Phenotype
chemical_list: D057137:DAX-1 Orphan Nuclear Receptor; C539965:NR0B1 protein, human