kw.\*:("spondylo- epiphyseal dysplasia")
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Mutation-Based Growth Charts for SEDC and other COL2A1 Related DysplasiasTERHAL, Paulien A; VAN DOMMELEN, Paula; HENNEKAM, Raoul C. M et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2012, Vol 160, Num 3, pp 205-216, issn 1552-4868, 12 p.Article
Spondylo-Epiphyseal Dysplasia, Maroteaux Type (Pseudo-Morquio Syndrome Type 2), and Parastremmatic Dysplasia are Caused by TRPV4 MutationsNISHIMURA, Gen; JIN DAI; MENDOZA-LONDONO, Roberto et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 6, pp 1443-1449, issn 1552-4825, 7 p.Article