| 1 |
Valquist A, Fischer J, Törmä H. Inherited nonsyndromic ichthyoses: an update on pathophysiology, diagnosis and treatment [J]. Am J Clin Dermatol, 2018, 19(1): 51-66.
|
| 2 |
Oji V, Tadini G, Akiyama M, et al. Revised nomenclature and classification of inherited ichthyoses: results of the first ichthyosis consensus conference in Sorèze 2009 [J]. J Am Acad Dermatol, 2010, 63(4): 607-641.
|
| 3 |
Cheng R, Liang J, Li Y, et al. Next‐generation sequencing through multi-gene panel testing for diagnosis of hereditary ichthyosis in Chinese [J]. Clin Genet, 2020, 97(5): 770-778.
|
| 4 |
Ginger RS, Blachford S, Rowland J, et al. Filaggrin repeat unmber polymorphism is associated with a dry skin phenotype [J]. Arch Dermatol Res, 2005, 297(6): 235-241.
|
| 5 |
Sekiya A, Kono M, Tsujiuchi H, et al. Compound heterozygotes for filaggrin gene mutations do not always show severe atopic dermatitis [J]. J Eur Acad Dermatol Venereol, 2017, 31(1): 158-162.
|
| 6 |
Teye K, Koga H, Nagai A, et al. 745 filaggrin gene (FLG) promoter polymorphisms are associated with atopic dermatitis but not ichthyosis vulgaris in Japan [J]. J Dermatol, 2018, 138(5): s127.
|
| 7 |
Wang X, Tan L, Shen N, et al. Exacerbation of ichthyosis vulgaris phenotype by co-inheritance of STS and FLG mutations in a Chinese family with ichthyosis: a case report [J]. BMC Med Genet, 2018, 19(1): 120.
|
| 8 |
Peter Rout D, Nair A, Gupta A, et al. Epidermolytic hyperkeratosis: clinical update [J]. Clin Cosmet Investig Dermatol, 2019, 12: 333-344.
|
| 9 |
Arin MJ, Oji V, Emmert S, et al. Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis [J]. Br J Dermatol, 2011, 164(2): 442-447.
|
| 10 |
Gray KA, Daugherty LC, Gordon SM, et al. Genenames.org: the HGNC resources in 2013 [J]. Nucleic Acids Res, 2013, 41(Database issue): D545-52.
|
| 11 |
Chiavérini C, Charlesworth A, Meneguzzi G, et al. Epidermolysis bullosa simplex with muscular dystrophy [J]. Dermatol Clin, 2010, 28(2): 245-255.
|
| 12 |
Oji V, Tadini G, Akiyama M, et al. Revised nomenclature and classification of inherited ichthyoses: results of the first ichthyosis consensus conference in Sorèze 2009 [J]. J Am Acad Dermatol, 2010, 63(4): 607-641.
|
| 13 |
Eckl KM, de Juanes S, Kurtenbach J, et al. Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B [J]. J Invest Dermatol, 2009, 129(6): 1421-1428.
|
| 14 |
Radner FP, Marrakchi S, Kirchmeier P, et al. Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans [J]. PLoS Genet, 2013, 9(6): e1003536.
|
| 15 |
Grall A, Guaguère E, Planchais S, et al. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans [J]. Nat Genet, 2012, 44(2): 140-147.
|
| 16 |
Kirchmeier P, Zimmer A, Bouadjar B, et al. Whole-exome-sequencing reveals small deletions in CASP14 in patients with autosomal recessive inherited ichthyosis [J]. Acta Derm Venereol, 2017, 97(1): 102-104.
|
| 17 |
Shigehara Y, Okuda S, Nemer G, et al. Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis [J]. Hum Mol Genet, 2016, 25(20): 4484-4493.
|
| 18 |
Heinz L, Kim GJ, Marrakchi S, et al. Mutations in SULT2B1 cause autosomal-recessive congenital ichthyosis in humans [J]. Am J Hum Genet, 2017, 100(6): 926-939.
|
| 19 |
Hennies HC, Küster W, Wiebe V, et al. Genotype/Phenotype correlation in autosomal recessive lamellar ichthyosis [J]. Am J Hum Genet, 1998, 62(5): 1052-1061.
|
| 20 |
Oji V, Traupe H. Ichthyoses: differential diagnosis and molecular genetics [J]. Eur J Dermatol, 2006, 16(4): 349-359.
|
| 21 |
González-Del Carmen M, Montaño S, et al. High prevalence of autosomal recessive congenital ichthyosis in a Mexican population caused by a new mutation in the TGM1 gene: epidemiological evidence of a founder effect [J]. Int J Dermatol, 2020, 59(8): 969-977.
|
| 22 |
Glick JB, Craiglow BG, Choate KA, et al. Improved management of harlequin ichthyosis with advances in neonatal intensive care [J]. Pediatrics, 2017, 139(1): e20161003.
|
| 23 |
Akiyama M. ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts [J]. Hum Mutat, 2010, 31(10): 1090-1096.
|
| 24 |
Rajpopat S, Moss C, Mellerio J, et al. Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases [J]. Arch Dermatol, 2011, 147(6): 681-686.
|
| 25 |
DiGiovanna JJ, Mauro T, Milstone LM, et al. Systemic retinoids in the management of ichthyoses and related skin types [J]. Dermatol Ther, 2013, 26(1): 26-38.
|
| 26 |
Esperón-Moldes U, Ginarte-Val M, RodríguezPazos L, et al. Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C＞T founder mutation [J]. PloS One, 2020, 15(2): e0229025.
|
| 27 |
Eckl KM, de Juanes S, Kurtenbaeh J, et a1. Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelicheterogeneity in ALOXl2B [J]. J Invest Dermatol, 2009, 129(6): 1421-1428.
|
| 28 |
Hainzl S, Peking P, Kocher T, et al. COL7A1 editing via CRISPR/Cas9 in recessive dystrophic epidermolysis bullosa [J]. Mol Ther, 2017, 25(11): 2573-2584.
|
| 29 |
De Palma AM, Mazereeuw‐Hautier J, Giehl K, et al. Burden of itch in ichthyosis: a multicentre study in 94 patients [J]. J Eur Acad Dermatol Venereol, 2019, 33(11): 2095-2100.
|
| 30 |
Borská R, Pinková B, Réblová K, et al. Inherited ichthyoses: molecular causes of the disease in Czech patients [J]. Orphanet J Rare Dis, 2019, 14(1): 92.
|