Structural and Functional Mutations of the Perlecan Gene Cause Schwartz-Jampel Syndrome, with Myotonic Myopathy and Chondrodysplasia
Eri Arikawa‐Hirasawa(Juntendo University), Yoshihiko Yamada(International University Of Health And Welfare Atami Hospital), Clair A. Francomano(Indiana University – Purdue University Indianapolis), Prasanthi Govindraj(Shriners Hospitals for Children - Erie), Joseph M. Devaney(University of Lübeck), Susan T. Iannaccone(Scottish Rite Hospital), Roger E. Stevenson(Piedmont Technical College), Ichizo Nishino(National Center of Neurology and Psychiatry), Marinos C. Dalakas(National and Kapodistrian University of Athens), John R. Hassell(Shriners Hospitals for Children - Erie), Ikuya Nonaka, Nicola C. Ho(Johns Hopkins University), Jürgen W. Spranger, Alexander H. Le(National Institute of Dental and Craniofacial Research)
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