title: Reproductive endocrinology: ESR1 mutation causes estrogen resistance and puberty delay in women.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Kugelberg
mesh_terms: D004958:Estradiol / Q000097:blood*; D047628:Estrogen Receptor alpha / Q000235:genetics*; D004967:Estrogens / Q000378:metabolism*; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D011628:Puberty, Delayed / Q000235:genetics*
chemical_list: D047628:Estrogen Receptor alpha; D004967:Estrogens; D004958:Estradiol
references.citation: N Engl J Med. 2013 Jul 11;369(2):164-71
references.pmid: 23841731