Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
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| Description | scientific article |
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author: Lauren J. Francey John Pappas Geert Mortier Juan Pié Jose Carlos Ferreira Jolanta Wierzba Peter Diakumis David J Amor Paldeep S Atwal Zornitza Stark Gabriele Gillessen-Kaesbach David FitzPatrick Han G. Brunner Encarna Guillén Navarro Louanne Hudgins Antonio Pérez-Aytés Helger G Yntema A. Micheil Innes Inga Vater University of Washington Center for Mendelian Genomics Katsuhiko Shirahige Raoul Hennekam Antonio Musio Hakon Hakonarson Jonathan Wilde Shane McKee |
| Publication date | January 8, 2014 |
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