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A new case of DOOR syndrome

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Wisniewska M., Siwinska Z., Felczak M., Wielkoszynski T., Krawczynski M., Latos-Bielenska A.
Journal of Applied Genetics
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2008
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vol. 49
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issue 1
101-103
EN
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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