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See Latest ArticlesSomatic and germ-line mosaicism in Rubinstein-Taybi syndrome
American Journal of Medical Genetics, 06/19/09
Chiang PW et al. - The authors hypothesize mutations in CREBBP in these two families occur in the postzygotic stage in one of the parents (one generation ahead) of the affected individual. Additional family studies are required to determine how common somatic and/or gonadal mosaicism is present in RSTS patients.
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Today in Reproductive Endocrinology...keeping you current
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Metformin Reduces Arterial Stiffness and Improves Endothelial Function in Young Women with Polycystic Ovary Syndrome: A Randomized, Placebo-Controlled, Crossover Trial
Journal of Clinical Endocrinology and Metabolism, 12/17/09
Associations of Birthweight and Gestational Age with Reproductive and Metabolic Phenotypes in Women with Polycystic Ovarian Syndrome and Their First-Degree Relatives
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A new FSHbeta mutation in a 29 year-old woman with primary amenorrhea and isolated FSH deficiency: functional characterization and ovarian response to human recombinant FSH
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