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S.I. Raza, N. Muhammad, S. Khan and W. Ahmad A novel missense mutation in the gene FZD6 underlies autosomal recessive nail dysplasia British Journal of Dermatology 168

Article first published online: 5 OCT 2012 | DOI: 10.1111/j.1365-2133.2012.11203.x

What’s already known about this topic?

  •  Autosomal recessive isolated nail dysplasia manifesting with claw-shaped nails was mapped on chromosome 8q22.3.
  •  Two mutations in the gene FZD6, mapped on chromosome 8q22.3, were reported recently.

What does this study add?

  •  The missense mutation, identified here, is only the third mutation detected in the gene FZD6.
  •  This study further verifies that mutation in the gene FZD6 results in claw-shaped nails.

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