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Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death.
Xue Y, Schoser B, Rao AR, Quadrelli R, Vaglio A, Rupp V, Beichler C, Nelson SF, Schapacher-Tilp G, Windpassinger C, Wilcox WR. Xue Y, et al. Circ Cardiovasc Genet. 2016 Apr;9(2):130-5. doi: 10.1161/CIRCGENETICS.115.001193. Epub 2016 Mar 1. Circ Cardiovasc Genet. 2016. PMID: 26933038 Free PMC article.
Response to Saul.
Xue Y, Ankala A, Wilcox WR, Hegde MR. Xue Y, et al. Genet Med. 2015 Sep;17(9):761. doi: 10.1038/gim.2015.114. Genet Med. 2015. PMID: 26331192 No abstract available.
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