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- W2005687567 abstract "In a patient affected by premature ovarian failure, a reciprocal translocation between chromosomes X and 3 and an additional heterozygous missense mutation in the X-linked gene <i>POF1B </i>were detected. Homozygosity for <i>POF1B</i> mutations is well-known to be associated with premature ovarian failure. In this case, the rare combination of skewed X inactivation due to the reciprocal translocation involving one X chromosome and heterozygosity for a known <i>POF1B</i> mutation explains the phenotype." @default.
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- W2005687567 date "2015-01-01" @default.
- W2005687567 modified "2023-10-17" @default.
- W2005687567 title "Premature Ovarian Failure Caused by a Heterozygous Missense Mutation in <b><i>POF1B</i></b> and a Reciprocal Translocation 46,X,t(X;3)(q21.1;q21.3)" @default.
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- W2005687567 doi "https://doi.org/10.1159/000373906" @default.
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