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Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis.
Pohler E, Cunningham F, Sandilands A, Cole C, Digby S, McMillan JR, Aristodemou S, McGrath JA, Smith FJ, McLean WH, Munro CS, Zamiri M. Pohler E, et al. Among authors: smith fj. Br J Dermatol. 2015 Nov;173(5):1291-4. doi: 10.1111/bjd.13895. Epub 2015 Aug 22. Br J Dermatol. 2015. PMID: 25965869 Free PMC article. No abstract available.
Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma.
Zamiri M, Smith FJ, Campbell LE, Tetley L, Eady RA, Hodgins MB, McLean WH, Munro CS. Zamiri M, et al. Among authors: smith fj. Br J Dermatol. 2009 Sep;161(3):692-4. doi: 10.1111/j.1365-2133.2009.09316.x. Epub 2009 Jun 25. Br J Dermatol. 2009. PMID: 19558595 No abstract available.
New and recurrent AAGAB mutations in punctate palmoplantar keratoderma.
Pohler E, Huber M, Boonen SE, Zamiri M, Gregersen PA, Sommerlund M, Ramsing M, Hohl D, McLean WH, Smith FJ. Pohler E, et al. Among authors: smith fj. Br J Dermatol. 2014 Aug;171(2):433-6. doi: 10.1111/bjd.12927. Epub 2014 Aug 7. Br J Dermatol. 2014. PMID: 24588319 Free PMC article. No abstract available.
279 results