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  • Özge Altug Teber, Gabriele Gillessen-Kaesbach, +22 authors Dagmar Wieczorek
  • Biology, Medicine
  • European Journal of Human Genetics
  • 2004 (First Publication: 1 November 2004)
  • To define the range of phenotypic expression in Treacher Collins syndrome (TCS; Franceschetti–Klein syndrome), we performed mutation analysis in the TCOF1 gene in 46 patients with tentative diagnosisExpand
  • Lot Snijders Blok, E. C. Madsen, +82 authors Tjitske Kleefstra
  • Biology, Medicine
  • American journal of human genetics
  • 2015 (First Publication: 6 August 2015)
  • Intellectual disability (ID) affects approximately 1%-3% of humans with a gender bias toward males. Previous studies have identified mutations in more than 100 genes on the X chromosome in males withExpand
  • Hiromi Hirata, Indrajit Nanda, +41 authors Vera M. Kalscheuer
  • Biology, Medicine
  • American journal of human genetics
  • 2013 (First Publication: 2 May 2013)
  • Arthrogryposis multiplex congenita (AMC) is caused by heterogeneous pathologies leading to multiple antenatal joint contractures through fetal akinesia. Understanding the pathophysiology of thisExpand