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Loss of Function HDAC8 Mutations Cause a Phenotypic Spectrum of Cornelia de Lange Syndrome-like Features, Ocular Hypertelorism, Large Fontanelle and X-linked Inheritance.

Pubmed ID: 
24403048
Year: 
2014
Month: 
JAN
Citation: 
Kaiser FJ, Ansari M, Braunholz D, Gil-Rodríguez MC, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillén-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I. Loss of Function HDAC8 Mutations Cause a Phenotypic Spectrum of Cornelia de Lange Syndrome-like Features, Ocular Hypertelorism, Large Fontanelle and X-linked Inheritance. HUMAN MOLECULAR GENETICS (2014) PubMed