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Familial Premature Ovarian Failure in Female Premutated Carriers of Fragile X Syndrome: a Case Report and Literature Review

✍ Scribed by Yu-Shiou Lin; Man-Li Yang


Book ID
117697265
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
63 KB
Volume
45
Category
Article
ISSN
1028-4559

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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