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Ha‐Vinh R, Alanay Y, Bank RA, Campos‐Xavier AB, Zankl A, Superti‐Furga A, Bonafé L. Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. American J of Med Genetics Pt A. 2004 Nov 02;131A(2):115–20. doi: 10.1002/ajmg.a.30231. |