@article{PankauGoschMeineckeetal.2005,
  author    = {Pankau, R. and Gosch, A. and Meinecke, P. and Sarimski, K. and Schneppenheim, R. and Weissenborn, J{\"u}rgen and Wessel, A. and Partsch, C. J.},
  title     = {Diagnosis and treatment in Williams-Beuren syndrome (WOS) : Guidelines of the Scientific Advisory Board of the German Williams-Beuren Syndrome Association},
  issn      = {0026-9298},
  year      = {2005},
  abstract  = {Williams-Beuren syndrome is a contiguous gene syndrome caused by a hemizygous microdeletion of DNA in 7q11.23 and its prevalence is estimated at 1 : 7500. The symptoms are variable. In addition to the typical craniofacial dysmorphia, cardiovascular malformations, renal malformations, motor and mental retardation, a characteristic personality profile, and disorders of growth and puberty are common. In contrast, hypercalcaemia and nephrocalcinosis, though frequently reported, are rarely encountered. Healthcare guidelines including diagnostic procedures and follow-up examinations as well as treatments are presented. These guidelines are based on the scientific literature and the personal experience that members of the Scientific Advisory Board of the German Williams-Beuren Syndrome Association have recorded in more than 400 patients},
  language  = {en}
}