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In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome
Virginie Carmignac, Julien Thevenon, Lesley Adès, Bert Callewaert, Sophie Julia, Christel Thauvin-Robinet, Lucie Gueneau, Jean-Benoit Courcet, Estelle Lopez, Katherine Holman, Marjolijn Renard, HenriVolume:
91
Year:
2012
Language:
english
DOI:
10.1016/j.ajhg.2012.10.002
File:
PDF, 888 KB
english, 2012