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Skewed X-chromosome inactivation is not associated with premature ovarian failure in a large cohort of Italian patients

✍ Scribed by Silvia Bione; Sara Benedetti; Mara Goegan; Immacolata Menditto; Anna Marozzi; Maurizio Ferrari; Daniela Toniolo

Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 70 KB
Volume: 140A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.31312

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## Abstract Since only 20% of female fragile X premutation carriers develop premature ovarian failure (POF, i.e., amenorrhea before age of 40 years), and since X chromosome inactivation (XCI) determines the phenotypic severity of full mutation women, we reasoned that the development of POF in fragi