Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature

por Kasparis, C., Reid, D., Wilson, N. J., Okur, V., Cole, C., Hansen, C. D., Bosse, K., Betz, R. C., Khan, M., Smith, F. J. D.
Publicado 2016

Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening

por Lovgren, M.‐L., McAleer, M.A., Irvine, A.D., Wilson, N.J., Tavadia, S., Schwartz, M.E., Cole, C., Sandilands, A., Smith, F.J.D., Zamiri, M.
Publicado 2017

Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis

por Pohler, E., Cunningham, F., Sandilands, A., Cole, C., Digby, S., McMillan, J.R., Aristodemou, S., McGrath, J.A., Smith, F.J.D., McLean, W.H.I., Munro, C.S., Zamiri, M.
Publicado 2015

Mutations in POGLUT1 in Galli–Galli/Dowling–Degos disease

por Wilson, N.J., Cole, C., Kroboth, K., Hunter, W.N., Mann, J.A., McLean, W.H.I., Kernland Lang, K., Beltraminelli, H., Sabroe, R.A., Tiffin, N., Sobey, G.J., Borradori, L., Simpson, E., Smith, F.J.D.
Publicado 2016