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First successful preimplantation genetic diagnosis of epidermolysis bullosa with pyloric atresia: Case study of a novel c.4505-4508insACTC mutation

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Author information

Authors and Affiliations

  1. Department of Medical Biology and Genetics, Istanbul Bilim University School of Medicine, Istanbul, Turkey

    Ayvaz Ozge & Baltacı Volkan

  2. Clinart IVF and Women Health Center, Trabzon, Turkey

    Hatırnaz Safak & Hatırnaz Ebru

  3. Department of Histology and Embryology, Istanbul Bilim University School of Medicine, Istanbul, Turkey

    Ünsal Evrim

  4. Genart IVF and Genetics center, Ankara, Turkey

    Sinanoglu Ekin Bilge

  5. Mikrogen Medical Genetics Research and Diagnostic Center, Ankara, Turkey

    Ozer Leyla

  6. Clinart IVF and Woman Health Center, Trabzon, Turkey

    Kadı Ali Kemal

Authors
  1. Ayvaz Ozge
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  2. Hatırnaz Safak
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  3. Hatırnaz Ebru
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  4. Ünsal Evrim
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  5. Sinanoglu Ekin Bilge
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  6. Ozer Leyla
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  7. Kadı Ali Kemal
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  8. Baltacı Volkan
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Corresponding author

Correspondence to Baltacı Volkan.

Additional information

Capsule This is the first succesful PGD for Epidermolysis Bullosa with pyloric atresia with the subsequent delivery of a healthy baby, as the literature revealed not one single result as such.

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Ozge, A., Safak, H., Ebru, H. et al. First successful preimplantation genetic diagnosis of epidermolysis bullosa with pyloric atresia: Case study of a novel c.4505-4508insACTC mutation. J Assist Reprod Genet 29, 347–352 (2012). https://doi.org/10.1007/s10815-012-9728-8

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  • DOI: https://doi.org/10.1007/s10815-012-9728-8

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