Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder
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E. Boltshauser | A. Superti-Furga | L. Bonafė | Y. Alanay | T. Costa | S. Unger | N. Kandemir | A. Giedion | R. Renella | G. Eich | D. Ballhausen | M. Lemerrer | E. Schaefer