Exome Sequencing Identified a Splice Site Mutation in <i>FHL1</i> that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death
Yuan Xue(University of Graz), William R. Wilcox(Emory University), Roberto Quadrelli(Howard Hughes Medical Institute), Verena Rupp(University of Graz), Christian Windpassinger(Medical University of Graz), Benedikt Schoser(Friedrich Baur Stiftung), Aliz R. Rao(Directorate-General for Interpretation), Christine Beichler(University of Graz), Alicia Vaglio(Howard Hughes Medical Institute), Stanley F. Nelson(University of California, Los Angeles)
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