Autosomal recessive disorder otospondylomegaepiphysial dysplasia is associated with loss-of-function mutations in the COL11A2 gene

Open Access
Authors
  • M. Melkoniemi
  • H.G. Brunner
  • S. Manouvrier
  • R.C.M. Hennekam
  • A. Superti-Furga
  • H. Kääriäinen
  • R.M. Pauli
  • T. van Essen
  • M.L. Warman
  • J. Bonaventure
  • P. Miny
  • L. Ala-Kokko
Publication date 2000
Journal American Journal of Human Genetics
Volume | Issue number 66
Pages (from-to) 368-377
Organisations
  • Faculty of Medicine (AMC-UvA)
Document type Article
Note SF. ©2000 University of Chicago Press
Published at https://doi.org/10.1086/302750
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