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Semidominant GPNMB Mutations in Amyloidosis Cutis Dyschromica.
Onoufriadis A, Hsu CK, Eide CR, Nanda A, Orchard GE, Tomita K, Sheriff A, Scott W, Tierney C, Lee JYW, Gomaa NS, Desomchoke R, Lwin SM, Tu WT, Chen LY, Huang HY, Chao SC, Yu-Yun Lee J, Bare Y, Hayday T, Guy AL, Liu L, Lees C, Hirdler T, Lovell P, Xia L, Dayrit JF, Calonje E, Simpson MA, Tolar J, Parsons M, McGrath JA. Onoufriadis A, et al. Among authors: desomchoke r. J Invest Dermatol. 2019 Dec;139(12):2550-2554.e9. doi: 10.1016/j.jid.2019.05.021. Epub 2019 Jun 19. J Invest Dermatol. 2019. PMID: 31226264 Free article. No abstract available.
Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis.
Simpson JK, Martinez-Queipo M, Onoufriadis A, Tso S, Glass E, Liu L, Higashino T, Scott W, Tierney C, Simpson MA, Desomchoke R, Youssefian L, SaeIdian AH, Vahidnezhad H, Bisquera A, Ravenscroft J, Moss C, O'Toole EA, Burrows N, Leech S, Jones EA, Lim D, Ilchyshyn A, Goldstraw N, Cork MJ, Darne S, Uitto J, Martinez AE, Mellerio JE, McGrath JA. Simpson JK, et al. Among authors: desomchoke r. Br J Dermatol. 2020 Mar;182(3):729-737. doi: 10.1111/bjd.18211. Epub 2019 Aug 26. Br J Dermatol. 2020. PMID: 31168818