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Beech CM, Liyanarachchi S, Shah NP, Sturm AC, Sadiq MF, de la Chapelle A, Tanner SM.Beech CM, et al.Orphanet J Rare Dis. 2011 Nov 13;6:74. doi: 10.1186/1750-1172-6-74.Orphanet J Rare Dis. 2011.PMID: 22078000Free PMC article.