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  • Bart Loeys, Junji Chen, +21 authors Harry C. Dietz
  • Biology, Medicine
  • Nature Genetics
  • 2005 (First Publication: 1 March 2005)
  • We report heterozygous mutations in the genes encoding either type I or type II transforming growth factor β receptor in ten families with a newly described human phenotype that includes widespreadContinue Reading
  • Matthew A Deardorff, Maninder Kaur, +15 authors Ian D. Krantz
  • Biology, Medicine
  • American journal of human genetics
  • 2007 (First Publication: 1 March 2007)
  • Mutations in the cohesin regulators NIPBL and ESCO2 are causative of the Cornelia de Lange syndrome (CdLS) and Roberts or SC phocomelia syndrome, respectively. Recently, mutations in the cohesinContinue Reading
  • Edgar A. Otto, Bart Loeys, +30 authors Friedhelm Hildebrandt
  • Medicine, Biology
  • Nature Genetics
  • 2005 (First Publication: 1 March 2005)
  • Nephronophthisis (NPHP) is the most frequent genetic cause of chronic renal failure in children. Identification of four genes mutated in NPHP subtypes 1–4 (refs. 4–9) has linked the pathogenesis ofContinue Reading