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X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

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Description scientific article
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author: Carolien G de Kovel  Nine V. A. M. Knoers  Gijs van Haaften  Raoul Hennekam 

Publication date August 1, 2012
Language English
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