Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia

Ingo Kurth, Eva Klopocki, Sigmar Stricker, Jolieke van Oosterwijk, Sebastian Vanek, Jens Altmann, Heliosa G Santos, Jeske J T van Harssel, Thomy de Ravel, Andrew O M Wilkie, Andreas Gal, Stefan Mundlos

Research output: Contribution to journalArticlepeer-review

96 Citations (Scopus)
Original languageEnglish
Pages (from-to)862-3
Number of pages2
JournalNature Genetics
Issue number8
Publication statusPublished - Aug 2009


  • Animals
  • DNA, Intergenic/genetics
  • Gene Duplication
  • Gene Expression Regulation, Developmental
  • Humans
  • Limb Deformities, Congenital/genetics
  • Mice
  • Nail Diseases/genetics
  • Regulatory Sequences, Nucleic Acid/genetics
  • SOX9 Transcription Factor/genetics

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