Striate palmoplantar keratoderma resulting from a missense mutation in DSG1

von Vodo, D., O’Toole, E.A., Malchin, N., Lahav, A., Adir, N., Sarig, O., Green, K., Smith, F. J.D., Sprecher, E.
Veröffentlicht in Br J Dermatol (2018)

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

von 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.
Veröffentlicht in Clin Exp Dermatol (2016)

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

von 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.
Veröffentlicht in Br J Dermatol (2017)

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

von 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
Veröffentlicht 2002

Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis

von 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.
Veröffentlicht in Br J Dermatol (2015)

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

von 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.
Veröffentlicht in Br J Dermatol (2016)