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A new case of DOOR syndrome

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Abstract

We present the case of a 9-year-old boy with DOOR syndrome recognized in the first year of his life because of a delayed development of speech. The diagnosis was based on characteristic abnormalities, including congenital deafness, nail and bone abnormalities, and mild mental retardation.

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Authors and Affiliations

  1. Chair and Department of Medical Genetics, Poznań University of Medical Sciences, Poland

    Marzena Wiśniewska, Zofia Siwińska, Michał Felczak, Maciej Krawczyński & Anna Latos-Bieleńska

  2. Chair and Department of Chemistry, Medical University of Silesia, Katowice, Poland

    Tomasz Wielkoszyński

Authors
  1. Marzena Wiśniewska
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  2. Zofia Siwińska
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  3. Michał Felczak
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  4. Tomasz Wielkoszyński
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  5. Maciej Krawczyński
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  6. Anna Latos-Bieleńska
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Corresponding author

Correspondence to Marzena Wiśniewska.

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Wiśniewska, M., Siwińska, Z., Felczak, M. et al. A new case of DOOR syndrome. J Appl Genet 49, 101–103 (2008). https://doi.org/10.1007/BF03195254

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  • DOI: https://doi.org/10.1007/BF03195254

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