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Leach EL, Shevell M, Bowden K, Stockler-Ipsiroglu S, van Karnebeek CD.Leach EL, et al.Orphanet J Rare Dis. 2014 Nov 30;9:197. doi: 10.1186/s13023-014-0197-2.Orphanet J Rare Dis. 2014.PMID: 25433678Free PMC article.Review.