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TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families

Pubmed ID: 
21658220
Year: 
2011
Month: 
JUN-09
Volume: 
6
Citation: 
Andreucci E, Aftimos S, Alcausin M, Haan E, Hunter W, Kannu P, Kerr B, McGillivray G, Gardner RJM, Patricelli MG, Sillence D, Thompson E, Zacharin M, Zankl A, Lamande SR, Savarirayan R. TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families. ORPHANET JOURNAL OF RARE DISEASES 6 (2011) PubMed