Recurrent Duplications of 17q12 Associated with Variable Phenotypes.
Elyse Mitchell,Andrew Douglas, Susanne Kjaegaard,Bert Callewaert,Arnaud Vanlander,Sandra Janssens,Amy Lawson Yuen,Cindy Skinner,Pinella Failla,Antonino Alberti,Emanuela Avola,Marco Fichera,Maria Kibaek,Maria C. Digilio,Mark C. Hannibal,Nicolette S. den Hollander,Veronica Bizzarri,Alessandra Renieri,Maria Antonietta Mencarelli,Tomas Fitzgerald, Serena Piazzolla,Elke van Oudenhove,Corrado Romano,Charles Schwartz,Evan E. Eichler,Anne Slavotinek,Luis Escobar,Diana Rajan,John Crolla,Nigel Carter,Jennelle C. Hodge,Heather C. Mefford American Journal of Medical Genetics Part A（2015）
Key words
CNV,genotype phenotype,duplication
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