Structural and Functional Mutations of the Perlecan Gene Cause Schwartz-Jampel Syndrome, with Myotonic Myopathy and Chondrodysplasia
Eri Arikawa‐Hirasawa(Gunma University), Yoshihiko Yamada(National Institutes of Health), Clair A. Francomano(National Institutes of Health), Prasanthi Govindraj(Shriners Hospitals for Children - Erie), Joseph M. Devaney(University of Lübeck), Susan T. Iannaccone(Scottish Rite Hospital), Roger E. Stevenson(Atrium Health Wake Forest Baptist), Ichizo Nishino(National Center of Neurology and Psychiatry), Marinos C. Dalakas(Thomas Jefferson University), 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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