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.
Complete the form below and we will send an e-mail message containing a link to the selected article on your behalf