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PPIB mutations cause severe osteogenesis imperfecta.
Am J Hum Genet. 2009 Oct;85(4):521-7. doi: 10.1016/j.ajhg.2009.09.001. Epub 2009 Sep 24.
Am J Hum Genet. 2009.
PMID: 19781681
Free PMC article.
Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype.
van Roij MH, Mizumoto S, Yamada S, Morgan T, Tan-Sindhunata MB, Meijers-Heijboer H, Verbeke JI, Markie D, Sugahara K, Robertson SP.
van Roij MH, et al.
Am J Med Genet A. 2008 Sep 15;146A(18):2376-84. doi: 10.1002/ajmg.a.32482.
Am J Med Genet A. 2008.
PMID: 18698629
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