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Elsewhere on the web
Mutations were associated with a range of ovarian anomalies, including 46, XX gonadal dysgenesis and 46, XX primary ovarian insufficiency.— New England Journal of Medicine
(Subject IV-4) with 46, XY complete gonadal dysgenesis (DNA unavailable).— New England Journal of Medicine
Mallet D, Bretones P, Michel-Calemard L, Dijoud F, David M, Morel Y. Gonadal dysgenesis without adrenal insufficiency in a 46, XY patient heterozygous for the nonsense C16X mutation: a case of SF1 haploinsufficiency.— New England Journal of Medicine
Hasegawa T, Fukami M, Sato N, et al. Testicular dysgenesis without adrenal insufficiency in a 46, XY patient with a heterozygous inactive mutation of steroidogenic factor-1.— New England Journal of Medicine
A novel mutation in the accessory DNA-binding domain of human steroidogenic factor 1 causes XY gonadal dysgenesis without adrenal insufficiency.— New England Journal of Medicine
Century Dictionary (1)
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