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Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.
Moffatt P, Ben Amor M, Glorieux FH, Roschger P, Klaushofer K, Schwartzentruber JA, Paterson AD, Hu P, Marshall C; FORGE Canada Consortium; Fahiminiya S, Majewski J, Beaulieu CL, Boycott KM, Rauch F. Moffatt P, et al. Am J Hum Genet. 2013 Feb 7;92(2):252-8. doi: 10.1016/j.ajhg.2012.12.001. Epub 2013 Jan 3. Am J Hum Genet. 2013. PMID: 23290074 Free PMC article.
A co-occurrence of osteogenesis imperfecta type VI and cystinosis.
Tucker T, Nelson T, Sirrs S, Roughley P, Glorieux FH, Moffatt P, Schlade-Bartusiak K, Brown L, Rauch F. Tucker T, et al. Among authors: moffatt p. Am J Med Genet A. 2012 Jun;158A(6):1422-6. doi: 10.1002/ajmg.a.35319. Epub 2012 Apr 23. Am J Med Genet A. 2012. PMID: 22528245
Mutations in WNT1 are a cause of osteogenesis imperfecta.
Fahiminiya S, Majewski J, Mort J, Moffatt P, Glorieux FH, Rauch F. Fahiminiya S, et al. Among authors: moffatt p. J Med Genet. 2013 May;50(5):345-8. doi: 10.1136/jmedgenet-2013-101567. Epub 2013 Feb 23. J Med Genet. 2013. PMID: 23434763
Osteogenesis imperfecta, an ever-expanding conundrum.
Glorieux FH, Moffatt P. Glorieux FH, et al. Among authors: moffatt p. J Bone Miner Res. 2013 Jul;28(7):1519-22. doi: 10.1002/jbmr.1982. J Bone Miner Res. 2013. PMID: 23696068 Free article. No abstract available.
108 results