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  • Katrien Janssens, F Vanhoenacker, +13 authors Wim Van Hul
  • Medicine, Biology
  • Journal of Medical Genetics
  • 2005 (First Publication: 13 May 2005)
  • Camurati-Engelmann disease (CED) is a rare autosomal dominant type of bone dysplasia. This review is based on the unpublished and detailed clinical, radiological, and molecular findings in 14 CEDExpand
  • Peter de Jonghe, Vincent Timmerman, +8 authors Christine van Broeckhoven
  • Biology, Medicine
  • Brain : a journal of neurology
  • 1999 (First Publication: 1 February 1999)
  • We observed a missense mutation in the peripheral myelin protein zero gene (MPZ, Thr124Met) in seven Charcot-Marie-Tooth (CMT) families and in two isolated CMT patients of Belgian ancestry.Expand
  • Elfride De Baere, Michael James Dixon, +24 authors Ludwine M Messiaen
  • Medicine, Biology
  • Human molecular genetics
  • 2001 (First Publication: 1 July 2001)
  • Mutations in FOXL2, a forkhead transcription factor gene, have recently been shown to cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) types I and II, a rare genetic disorder. InExpand