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Xq;autosome translocation in POF: Xq27.2 deletion resulting in haploinsufficiency for SPANX

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None of the authors have a conflict of interest to report.

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Authors and Affiliations

  1. Department of Obstetric and Gynecology, Division of Reproductive Endocrinology & Infertility, Women & Infants Hospital of Rhode Island, Warren Alpert Medical School of Brown University, 90 Plain Street, Providence, RI, 02903, USA

    Wendy S. Vitek, Kelly Pagidas, John R. Pepperell, Umadevi Tantravahi & Beth J. Plante

  2. Genetics Associates, Nashville, TN, 37203, USA

    Guangyu Gu

  3. Department of Human and Molecular Genetics, Herbert Wertheim College of Medicine, Florida International University, Miami, FL, 33174, USA

    Joe Leigh Simpson

Authors
  1. Wendy S. Vitek
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  2. Kelly Pagidas
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  3. Guangyu Gu
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  4. John R. Pepperell
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  5. Joe Leigh Simpson
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  6. Umadevi Tantravahi
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  7. Beth J. Plante
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Corresponding author

Correspondence to Wendy S. Vitek.

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Capsule

A case of POF with an Xq;autosome translocation near the POF2 region and a cryptic deletion in the POF1 resulting in halpoinsufficiency for SPANX.

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Vitek, W.S., Pagidas, K., Gu, G. et al. Xq;autosome translocation in POF: Xq27.2 deletion resulting in haploinsufficiency for SPANX. J Assist Reprod Genet 29, 63–66 (2012). https://doi.org/10.1007/s10815-011-9653-2

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  • DOI: https://doi.org/10.1007/s10815-011-9653-2

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