Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome

Christian R. Marshall, Sandra A. Farrell, Donna Cushing, Tara Paton, Tracy L. Stockley, Dimitri J. Stavropoulos, Peter N. Ray, Michael Szego, Lynette Lau, Sergio L. Pereira, Ronald D. Cohn, Richard F. Wintle, Adel M. Abuzenadah, Muhammad Abu-Elmagd, Stephen W. Scherer

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