[1] Van Gysel D,Lijnen RL,Moekti SS,et al.Collodion baby:a follow-up study of 17 cases.[J] .Journal of the European Academy of Dermatology and Venereology,2010,16(5):472-475.
[2] Palamar M,Onay H,Ertam I,et al.Genotype and anterior segment phenotype in a cohort of Turkish patients with lamellar ichthyosis[J].Ophthalmic Genet,2015,36(3):22 9-333.
[3] Rajpopat S,Moss C,Melhrio J,et al.Harlequin ichthyosis:A reviewof climical and molecular findings in 45 cases[J].Arch Dennoatol,2011,147(6):681-686.
[4] Sugiura K,Akiyama M.Update on autosomal recessive congenital ichthyosis:mRNA analysis using hair samples is a powerful tool for genetic diagnosis[J] .Journal of Dermatological Science,2015,79(1):4-9.
[5] Fischer J. Autosomal recessive congentital ichthyosis[J].J Invest Dermatol,2009,129(6):1919-1321.
[6] Russell LJ,Digiovanna JJ,Hashem N,et al.Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q [J].Am J Hum Genet,1994,55(6): 1146-1152.
[7] Huber M,Rettler I,Bernasconi K,et al. Lamellar ichthyosis is genetically heterogeneous--cases with Normal Keratinocyte transglutaminase.[J].J Invest Dermatol,1995,105(5):653-654.
[8] 曹先伟,林志淼,张黎黎,等. 板层状鱼鳞病两家系TGM1基因的突变[J].临床皮肤科杂志,2008,37(7):431-433.
[9] Rodriguez-Pazos L,Ginarte M,Vega-Gliemmo A,et al.Lamellar ichthyosis with a novel homozygous C-terminal mutation in the transglutaminase-1 gene[J].Int J Dermatol,2009,48( 11) : 1195-1197.
[10] Louhichi N,Hadjsalem I,Marrakchi S,et al.Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene.[J].Mol Biol Rep,2013,40( 3) : 2527-2532.
[11] Krieg P,Marks F,Furstenberger G.A gene cluster encoding human epidermis-type lipoxygenases at chromosome 17p13.1: cloning,physical mapping,and expression.[J].Genomics,2001,73(3):323-330.
[12] Eckl KM,Krieg P,Kuster W,et al.Mutation spectrumand functional analysis of epidermis-type lipoxygenases inpatients with autosomal recessive congenital ichthyosis[J].Hum Mutat,2005,26(4):351-361.
[13] Bubanale SC,Lmg DPS,Kurbet BB. Spontaneous subconjunctival abscess in congenital lamellar ichthyosis[J].Indian Journal of Ophthalmology,2018,66(6):856.
[14] Kurosawa M,Uehara R,Takagi A,et al.Results of a nationwide epidemiologic survey of autosomal recessive congenital ichthyosis and ichthyosis syndromes in Japan[J].J Am Acad Dermatol,2018,7(4):56-59. |
