X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face (Q34293833)
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English | 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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Statements
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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 (English)
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Raoul C M Hennekam
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Nine V A M Knoers
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Magdalena Harakalova
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Marie-Jose van den Boogaard
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Richard Sinke
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Stef van Lieshout
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Marc C van Tuil
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Karen Duran
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Ivo Renkens
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Paulien A Terhal
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Ies J Nijman
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Mieke van Haelst
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Wigard Kloosterman
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Edwin Cuppen
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Hans Kristian Ploos van Amstel
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1 August 2012
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49
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8
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539-543
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