Of mice, men, and King Tut: autosomal recessive Klippel–Feil syndrome is caused by mutations in MEOX1


  • RO Rosti

    Corresponding author
    • Department of Neurosciences and Pediatrics, Neurogenetics Laboratory, Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, CA, USA.
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e-mail: ozgurrosti@yahoo.com


Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly.

Jawahir et al. (2013)

The American Journal of Human Genetics 92: 157–161