Author:
Bardai Ghalib,Lemyre Emmanuelle,Moffatt Pierre,Palomo Telma,Glorieux Francis H.,Tung Joanna,Ward Leanne,Rauch Frank
Funder
Shriners of North America
Publisher
Springer Science and Business Media LLC
Subject
Endocrinology,Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism
Reference27 articles.
1. Marini JC, Blissett AR (2013) New genes in bone development: what’s new in osteogenesis imperfecta. J Clin Endocrinol Metab 98:3095–3103
2. Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, Mortier G, Mundlos S, Nishimura G, Rimoin DL, Robertson S, Savarirayan R, Sillence D, Spranger J, Unger S, Zabel B, Superti-Furga A (2011) Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A 155A:943–968
3. Ben Amor IM, Roughley P, Glorieux FH, Rauch F (2013) Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations in COL1A1. J Bone Miner Res 28:2001–2007
4. van Dijk FS, Huizer M, Kariminejad A, Marcelis CL, Plomp AS, Terhal PA, Meijers-Heijboer H, Weiss MM, van Rijn RR, Cobben JM, Pals G (2010) Complete COL1A1 allele deletions in osteogenesis imperfecta. Genet Med 12:736–741
5. Harbuz R, Bilan F, Couet D, Charraud V, Kitzis A, Gilbert-Dussardier B (2013) Osteogenesis imperfecta, tricho-dento-osseous syndrome and intellectual disability: a familial case with 17q21.33-q22 (COL1A1 and DLX3) deletion and 7q32.3-q33 duplication resulting from a reciprocal interchromosomal insertion. Am J Med Genet A 161a:2504–2511
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