De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.

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作者： Valerie A,Arboleda ^[1] ; Hane,Lee ^[1] ; Naghmeh,Dorrani ^[2] ; Neda,Zadeh ^[3] ; Mary,Willis ^[4] ; Colleen Forsyth,Macmurdo ^[5] ; Melanie A,Manning ^[6] ; Andrea,Kwan ^[7] ; Louanne,Hudgins ^[5] ; Florian,Barthelemy ^[8] ; M Carrie,Miceli ^[8] ; Fabiola,Quintero-Rivera ^[1] ; Sibel,Kantarci ^[1] ; Samuel P,Strom ^[1] ; Joshua L,Deignan ^[1] ; UCLA Clinical Genomics Center ^[9] ; Wayne W,Grody ^[10] ; Eric,Vilain ^[11] ; Stanley F,Nelson

作者单位： Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA. ^[1] Department of Pediatrics, Division of Medical Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA, USA. ^[2] Division of Medical Genetics, CHOC Children's Hospital of Orange County, CA 92868, USA; Genetics Center, Orange, CA 92868, USA. ^[3] Department of Pediatrics, Naval Medical Center, San Diego, 92134, USA. ^[4] Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA. ^[5] Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA; Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA. ^[6] Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA. ^[7] Department of Microbiology, Immunology and Molecular Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA. ^[8] Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Pediatrics, Division of Medical Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA. ^[9] Department of Pediatrics, Division of Medical Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA. ^[10] Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA. Electronic address: snelson@ucla.edu. ^[11]