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Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.
Munns CF, Fahiminiya S, Poudel N, Munteanu MC, Majewski J, Sillence DO, Metcalf JP, Biggin A, Glorieux F, Fassier F, Rauch F, Hinsdale ME. Munns CF, et al. Among authors: rauch f. Am J Hum Genet. 2015 Jun 4;96(6):971-8. doi: 10.1016/j.ajhg.2015.04.017. Epub 2015 May 28. Am J Hum Genet. 2015. PMID: 26027496 Free PMC article.
Type V osteogenesis imperfecta: a new form of brittle bone disease.
Glorieux FH, Rauch F, Plotkin H, Ward L, Travers R, Roughley P, Lalic L, Glorieux DF, Fassier F, Bishop NJ. Glorieux FH, et al. Among authors: rauch f. J Bone Miner Res. 2000 Sep;15(9):1650-8. doi: 10.1359/jbmr.2000.15.9.1650. J Bone Miner Res. 2000. PMID: 10976985 Free article. Clinical Trial.
448 results