Striate palmoplantar keratoderma resulting from a missense mutation in DSG1

Por Vodo, D., O’Toole, E.A., Malchin, N., Lahav, A., Adir, N., Sarig, O., Green, K., Smith, F. J.D., Sprecher, E.
Publicado no Br J Dermatol (2018)

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 no Clin Exp Dermatol (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 no Br J Dermatol (2017)

A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy

Por Irvine, A D, Coleman, C M, Moore, J E, Swensson, O, Morgan, S J, McCarthy, J H, Smith, F J D, Black, G C M, McLean, W H I
Publicado em 2002

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 no Br J Dermatol (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 no Br J Dermatol (2016)