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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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| Authors: | Magdalena Harakalova Marie-Jose van den Boogaard Richard Sinke Stef van Lieshout Marc C van Tuil Karen Duran Ivo Renkens Paulien A Terhal Carolien de Kovel Ies J Nijman Mieke van Haelst Nine V A M Knoers Gijs van Haaften Wigard Kloosterman Raoul C M Hennekam Edwin Cuppen Hans Kristian Ploos van Amstel |
| Affiliation: | Department of Medical Genetics, University Medical Center Utrecht (UMCU), Utrecht 3584 EA, The Netherlands; j.k.ploosvanamstel@umcutrecht.nl. |
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| 本文献已被 PubMed 等数据库收录！ | |