Heterozygous frameshift mutation in keratin 5 in a family with Galli–Galli disease

por Reisenauer, AK, Wordingham, SV, York, J, Kokkonen, EWJ, Mclean, WHI, Wilson, NJ, Smith, FJD
Publicado 2014

New and recurrent AAGAB mutations in punctate palmoplantar keratoderma

por Pohler, E, Huber, M, Boonen, SE, Zamiri, M, Gregersen, PA, Sommerlund, M, Ramsing, M, Hohl, D, McLean, WHI, Smith, FJD
Publicado 2014

The molecular genetic analysis of the expanding pachyonychia congenita case collection

por Wilson, NJ, O'Toole, EA, Milstone, LM, Hansen, CD, Shepherd, AA, Al-Asadi, E, Schwartz, ME, McLean, WHI, Sprecher, E, Smith, FJD
Publicado 2014

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