Striate palmoplantar keratoderma resulting from a missense mutation in DSG1

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

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

द्वारा 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.
में प्रकाशित Clin Exp Dermatol (2016)

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

द्वारा 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.
में प्रकाशित Br J Dermatol (2017)

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

द्वारा 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
प्रकाशित 2002

Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis

द्वारा 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.
में प्रकाशित Br J Dermatol (2015)

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

द्वारा 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.
में प्रकाशित Br J Dermatol (2016)