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Recessive osteogenesis imperfecta caused by missense mutations in SPARC.
Mendoza-Londono R, Fahiminiya S, Majewski J; Care4Rare Canada Consortium; Tétreault M, Nadaf J, Kannu P, Sochett E, Howard A, Stimec J, Dupuis L, Roschger P, Klaushofer K, Palomo T, Ouellet J, Al-Jallad H, Mort JS, Moffatt P, Boudko S, Bächinger HP, Rauch F. Mendoza-Londono R, et al. Among authors: boudko s. Am J Hum Genet. 2015 Jun 4;96(6):979-85. doi: 10.1016/j.ajhg.2015.04.021. Epub 2015 May 28. Am J Hum Genet. 2015. PMID: 26027498 Free PMC article.
Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB.
Rauch F, Fahiminiya S, Majewski J, Carrot-Zhang J, Boudko S, Glorieux F, Mort JS, Bächinger HP, Moffatt P. Rauch F, et al. Among authors: boudko s. Am J Hum Genet. 2015 Mar 5;96(3):425-31. doi: 10.1016/j.ajhg.2014.12.027. Epub 2015 Feb 12. Am J Hum Genet. 2015. PMID: 25683117 Free PMC article.
Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta.
Syx D, Ishikawa Y, Gebauer J, Boudko SP, Guillemyn B, Van Damme T, D'hondt S, Symoens S, Nampoothiri S, Gould DB, Baumann U, Bächinger HP, Malfait F. Syx D, et al. Among authors: boudko sp. PLoS Genet. 2021 Feb 1;17(2):e1009339. doi: 10.1371/journal.pgen.1009339. eCollection 2021 Feb. PLoS Genet. 2021. PMID: 33524049 Free PMC article.
48 results