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3. Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review. Wallace SE; Lachman RS; Mekikian PB; Bui KK; Wilcox WR Am J Med Genet A; 2004 Sep; 129A(3):235-47. PubMed ID: 15326622 [TBL] [Abstract][Full Text] [Related]
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