[1] |
Ishida-Yamamoto A. Erythrokeratodermia variabilis et progressiva[J]. J Dermatol, 2016, 43(3): 280-285.
|
[2] |
Common JE, O'Toole EA, Leigh IM, et al. Clinical and genetic heterogeneity of erythrokeratoderma variabilis[J]. J Invest Dermatol, 2005, 125(5): 920-927.
pmid: 16297190
|
[3] |
Balci DD, Yaldiz M. Erythrokeratodermia variabilis: successful palliative treatment with acitretin[J]. Indian J Dermatol Venereol Leprol, 2008, 74(6): 649-650.
pmid: 19171995
|
[4] |
Richard G, Smith LE, Bailey RA, et al. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis[J]. Nat Genet, 1998, 20(4): 366-369.
doi: 10.1038/3840
pmid: 9843209
|
[5] |
Yang Z, Qi Z, Xu Z, et al. Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient[J]. Pediatr Investig, 2020, 4(1): 51-54.
|
[6] |
Eskin-Schwartz M, Drozhdina M, Sarig O, et al. Epidermolytic ichthyosis sine epidermolysis[J]. Am J Dermatopathol, 2017, 39(6): 440-444.
doi: 10.1097/DAD.0000000000000674
pmid: 28121638
|
[7] |
Bakhchane A, Kindil Z, Charoute H, et al. Compound heterozygous SLC29A3 mutation causes H syndrome in a Moroccan patient: A case report[J]. Curr Res Transl Med, 2016, 64(2): 65-68.
doi: 10.1016/j.retram.2016.01.008
pmid: 27316388
|
[8] |
Oh DY, Jung KE, Lee JS, et al. A case of erythro-keratodermia variabilis in Korean[J]. Ann Dermatol, 2019, 31(Suppl): S49-S51.
|
[9] |
Richard G, Brown N, Smith LE, et al. The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3[J]. Hum Genet, 2000, 106(3): 321-329.
pmid: 10798362
|
[10] |
Wilgoss A, Leigh IM, Barnes MR, et al. Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis[J]. J Invest Dermatol, 1999, 113(6): 1119-1122.
pmid: 10594760
|
[11] |
Shah M, Baral S, Adhikari RC. Erythrokeratoderma variabilis (EKV) - first Nepalese case documenting GJB3 mutation[J]. Skin Health Dis, 2021, 1(4): e63.
|
[12] |
Glatz M, van Steensel MA, van Geel M, et al. An unusual missense mutation in the GJB3 gene resulting in severe erythrokeratodermia variabilis[J]. Acta Derm Venereol, 2011, 91(6): 714-715.
|
[13] |
Imura K, Ikeya S, Ogata T, et al. Erythrokeratodermia variabilis et progressiva with a rare GJB3 mutation[J]. J Dermatol, 2020, 47(4): e111-e113.
|
[14] |
Morley SM, White MI, Rogers M, et al. A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis[J]. Br J Dermatol, 2005, 152(6): 1143-1148.
|
[15] |
Otaguchi R, Kawakami T, Matsuoka M, et al. A sporadic elder case of erythrokeratodermia variabilis with a single base-pair transversion in GJB3 gene successfully treated with systemic vitamin A derivative[J]. J Dermatol, 2014, 41(11): 1016-1018.
|
[16] |
Feldmeyer L, Plantard L, Mevorah B, et al. Novel mutation of connexin 31 causing erythrokeratoderma variabilis[J]. Br J Dermatol, 2005, 152(5): 1072-1074.
|
[17] |
Wang ZX, Lu WS, Li H, et al. A novel GJB3 (Cx31) missense mutation in a Chinese patient with erythrokeratodermia variabilis[J]. J Eur Acad Dermatol Venereol, 2011, 25(1): 113-115.
doi: 10.1111/j.1468-3083.2010.03691.x
pmid: 20497287
|
[18] |
Renner R, Paasch U, Simon JC, et al. A new mutation in the GJB3 gene in a patient with erythrokeratodermia variabilis[J]. J Eur Acad Dermatol Venereol, 2008, 22(6): 750-751.
doi: 10.1111/j.1468-3083.2007.02447.x
pmid: 18482034
|
[19] |
Deng Y, Wang H, Mou Y, et al. Exome sequencing identifies novel compound heterozygous mutations in GJB3 gene that cause erythrokeratodermia variabilis et progressiva[J]. Australas J Dermatol, 2019, 60(1): e87-e89.
|
[20] |
Fuchs-Telem D, Pessach Y, Mevorah B, et al. Erythrokeratoderma variabilis caused by a recessive mutation in GJB3[J]. Clin Exp Dermatol, 2011, 36(4): 406-411.
doi: 10.1111/j.1365-2230.2010.03986.x
pmid: 21564177
|
[21] |
Gottfried I, Landau M, Glaser F, et al. A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein[J]. Hum Mol Genet, 2002, 11(11): 1311-1316.
pmid: 12019212
|
[22] |
Wang W, Liu LH, Chen G, et al. A missense mutation in the GJB3 gene responsible for erythrokeratodermia variabilis in a Chinese family[J]. Clin Exp Dermatol, 2012, 37(8): 919-921.
doi: 10.1111/j.1365-2230.2012.04406.x
pmid: 22681493
|
[23] |
Gao Y, Zhang Q, Zhang S, Yang L, Liu Y, Liu Y, Wang T. A connexin gene (GJB3) mutation in a Chinese family with erythrokeratodermia variabilis, ichthyosis and nonsyndromic hearing loss: case report and mutations update[J]. Front Genet, 2022, 13: 797124.
|
[24] |
Terrinoni A, Leta A, Pedicelli C, et al. A novel recessive connexin 31 (GJB3) mutation in a case of erythrokeratodermia variabilis[J]. J Invest Dermatol, 2004, 122(3): 837-839.
doi: 10.1111/j.0022-202X.2004.22311.x
pmid: 15086573
|
[25] |
Scott CA, Kelsell DP. Key functions for gap junctions in skin and hearing[J]. Biochem J, 2011, 438(2):245-254.
doi: 10.1042/BJ20110278
pmid: 21834795
|
[26] |
Sugiura K, Arima M, Matsunaga K, et al. The novel GJB3 mutation p.Thr202Asn in the M4 transmembrane domain underlies erythrokeratodermia variabilis[J]. Br J Dermatol, 2015, 173(1): 309-311.
doi: 10.1111/bjd.13641
pmid: 25556823
|
[27] |
王雯. 可变性红斑角化症一家系GJB3和GJB4基因突变研究[D]. 安徽: 安徽医科大学, 2012.
|
[28] |
周欣, 任军, 田歆, 等. 二例可变性红斑角化症患者GJB3、4基因突变研究[J]. 中华皮肤科杂志, 2012, 45(2): 129-130.
|
|
Zhou X, Ren J, Tian X, et al. Study on GJB3 and GJB4 gene mutations in two patients with variable red spot keratosis[J]. Zhonghua Pifuke Zazhi, 2012, 45(2): 129-130.
|
[29] |
刘红, 付希安, 张福仁. 4例可变性红斑角化症的基因突变检测[J]. 中国麻风皮肤病杂志, 2011, 27(5): 304-306.
|
|
Liu H, Fu XA, Zhang FR. Detection of gene mutations in four cases of variable erythrodermic ichthyosis[J]. Zhongguo Mafeng Pifubing Zazhi, 2011, 27(5): 304-306.
|
[30] |
张莹, 陈浩, 孙建方. GJB3基因纯合突变致可变性红斑角化症一例[J]. 中华皮肤科杂志, 2020, 53(11) : 936-937.
|
|
Zhang Y, Chen H, Sun JF. A case of variable erythrokeratoderma caused by homozygous mutation of GJB3 gene[J]. Zhonghua Pifuke Zazhi, 2020, 53(11): 936-937.
|