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References

1. Andreucci E, Aftimos S, Alcausin M, Haan E, Hunter W, Kannu P, Kerr B,McGillivray G, McKinlay Gardner RJ, Patricelli MG, Sillence D, Thompson E,Zacharin M, Zankl A, Lamandé SR, Savarirayan R. TRPV4 related skeletaldysplasias: a phenotypic spectrum highlighted byclinical, radiographic, andmolecular studies in 21 new families. Orphanet J Rare Dis. 2011 Jun 9;6:37. doi: 10.1186/1750-1172-6-37.
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3. Geneviève D, Le Merrer M, Feingold J, Munnich A, Maroteaux P, Cormier-Daire V.Revisiting metatropic dysplasia: presentation of a series of 19 novel patientsand review of the literature. Am J Med Genet A. 2008 Apr 15;146A(8):992-6. doi:10.1002/ajmg.a.32191. Review.
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