Noordam, Cees

Inactivating PAPSS2 mutations in a patient with premature pubarche. [electronic resource] - The New England journal of medicine May 2009 - 2310-8 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1533-4406

10.1056/NEJMoa0810489 doi


Androgens--blood
Androstenedione--blood
Child
Dehydroepiandrosterone--blood
Diagnosis, Differential
Female
Heterozygote
Humans
Multienzyme Complexes--deficiency
Mutation
Polycystic Ovary Syndrome--diagnosis
Puberty, Precocious--blood
RNA, Messenger--metabolism
Sequence Analysis, DNA
Sulfate Adenylyltransferase--deficiency
Sulfotransferases--blood
Testosterone--blood