A new case of DOOR syndrome.

J Appl Genet

Chair and Department of Medical Genetics, Poznań University of Medical Sciences, Grunwaldzka 55, pav.15, 60-352 Poznań, Poland.

Published: July 2008

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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Source
http://dx.doi.org/10.1007/BF03195254DOI Listing

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