Revisiting pachyonychia congenita: a case‐cohort study of 815 patients von Samuelov, L., Smith, F.J.D., Hansen, C.D., Sprecher, E.

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Chronic pain in pachyonychia congenita: evidence for neuropathic origin von Brill, S., Sprecher, E., Smith, F.J.D., Geva, N., Gruener, H., Nahman‐Averbuch, H., Defrin, R.

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The molecular genetic analysis of the expanding pachyonychia congenita case collection von Wilson, N.J., O'Toole, E.A., Milstone, L.M., Hansen, C.D., Shepherd, A.A., Al-Asadi, E., Schwartz, M.E., McLean, W.H.I., Sprecher, E., Smith, F.J.D.

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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.

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Plectin deficiency results in muscular dystrophy with epidermolysis bullosa von Leigh, I.M, Bryant, S.P, Milana, G, Kirtschig, G, Pulkkinen, L, Smith, F.J.D, McLean, W.H.I, Eady, R.A.J, Spurr, N.K, Owaribe, K, McMillan, J.R, Lane, E.B, Geddes, J.F, de Bono, A.G, Uitto, J, Wiche, G, Kelsell, D.P, Rugg, E.L

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Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB von Zamiri, M., Wilson, N.J., Mackenzie, A., Sobey, G., Leitch, C., Smith, F.J.D.

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Novel mutations in desmoglein 1: focal palmoplantar keratoderma in milder phenotypes von Zamiri, M., Wilson, N.J., O'Toole, E.A., Smith, F.J.D.

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Focal PPK secondary to a novel KRT 6C mutation (Pachyonychia congenita‐K6c) von Wee, J.S., Smith, F.J.D., Wilson, N.J., O'Toole, E.A.

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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.J., Smith, F.J.D., Sprecher, E.

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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.

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Report of the 13th Annual International Pachyonychia Congenita Consortium Symposium von Rittié, L., Kaspar, R.L., Sprecher, E., Smith, F.J.D.

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Mutations in the mevalonate pathway genes in Chinese patients with porokeratosis von Li, M., Li, Z., Wang, J., Ni, C., Sun, Z., Wilson, N.J., Zhang, J., Chen, F., Li, X., Du, X., Yu, H., Zhang, L., Smith, F.J.D., Zhang, G., Yao, Z.

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Heterozygous frameshift mutation in keratin 5 in a family with G alli– G alli disease von Reisenauer, A.K., Wordingham, S.V., York, J., Kokkonen, E.W.J., Mclean, W.H.I., Wilson, N.J., Smith, F.J.D.

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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.

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Mutations in POGLUT 1 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.

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Focal PPK secondary to a novel KRT6C mutation (Pachyonychia congenita-K6c) von Wee, J.S., Smith, F.J.D., Wilson, N.J., O'Toole, E.A.

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Compound heterozygous mutations in desmoplakin cause skin fragility and woolly hair: Correspondence von Smith, F.J.D., Wilson, N.J., Moss, C., Dopping-Hepenstal, P., McGrath, J.

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Mutations in GJB6 causing phenotype resembling pachyonychia congenita von Hale, G.I., Wilson, N.J., Smith, F.J.D., Wylie, G., Schwartz, M.E., Zamiri, M.

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Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16 von Spaunhurst, K.M., Hogendorf, A.M., Smith, F.J.D., Lingala, B., Schwartz, M.E., Cywinska-Bernas, A., Zeman, K.J., Tang, J.Y.

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New and recurrent AAGAB mutations in punctate palmoplantar keratoderma von Pohler, E., Huber, M., Boonen, S.E., Zamiri, M., Gregersen, P.A., Sommerlund, M., Ramsing, M., Hohl, D., McLean, W.H.I., Smith, F.J.D.

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