TY - GEN AU - Noordam,Cees AU - Dhir,Vivek AU - McNelis,Joanne C AU - Schlereth,Florian AU - Hanley,Neil A AU - Krone,Nils AU - Smeitink,Jan A AU - Smeets,Roel AU - Sweep,Fred C G J AU - Claahsen-van der Grinten,Hedi L AU - Arlt,Wiebke TI - Inactivating PAPSS2 mutations in a patient with premature pubarche SN - 1533-4406 PY - 2009///0605 KW - Androgens KW - blood KW - Androstenedione KW - Child KW - Dehydroepiandrosterone KW - Diagnosis, Differential KW - Female KW - Heterozygote KW - Humans KW - Multienzyme Complexes KW - deficiency KW - Mutation KW - Polycystic Ovary Syndrome KW - diagnosis KW - Puberty, Precocious KW - RNA, Messenger KW - metabolism KW - Sequence Analysis, DNA KW - Sulfate Adenylyltransferase KW - Sulfotransferases KW - Testosterone N1 - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't UR - https://doi.org/10.1056/NEJMoa0810489 ER -