一例进行性对称性红斑角化症GJB2基因突变分析(3)
[8] 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.
[9] Richard G，White TW，Smith LE，et al.Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma[J].Hum Genet，1998，103(4)：393-399.
[10] Yin J，Xu G，Wang H，et al.New and recurrent SERPINB7 mutations in seven Chinese patients with Nagashima-type palmoplantar keratosis[J].J Invest Dermatol，2014，134(8)：2269-2272.
[11] van Steensel MA，van Geel M，Nahuys M，et al.A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome[J].J Invest Dermatol，2002，118(4)：724-727.
[12] Richard G，Rouan F，Willoughby CE，et al.Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome[J].Am J Hum Genet，2002，70(5)：1341-1348.
[13] 張锡宝，魏生才，王艳芳，等.角膜炎、鱼鳞病、耳聋综合征的GJB2基因突变研究[J].中华皮肤科杂志，2006，39(3)：146-148.
[14] Zhang XB，Wei SC，Li CX，et al.Mutation of GJB2 in a Chinese patient with keratitis-ichthyosis-deafness syndrome and brain malformation[J].Clin Exp Dermatol，2009，34(3)：309-313.
(收稿日期：2017-04-10 修回日期：2017-04-28)
(编辑：潘明志), http://www.100md.com(杨铭华 李常兴 梅晓珍)
[9] Richard G，White TW，Smith LE，et al.Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma[J].Hum Genet，1998，103(4)：393-399.
[10] Yin J，Xu G，Wang H，et al.New and recurrent SERPINB7 mutations in seven Chinese patients with Nagashima-type palmoplantar keratosis[J].J Invest Dermatol，2014，134(8)：2269-2272.
[11] van Steensel MA，van Geel M，Nahuys M，et al.A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome[J].J Invest Dermatol，2002，118(4)：724-727.
[12] Richard G，Rouan F，Willoughby CE，et al.Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome[J].Am J Hum Genet，2002，70(5)：1341-1348.
[13] 張锡宝，魏生才，王艳芳，等.角膜炎、鱼鳞病、耳聋综合征的GJB2基因突变研究[J].中华皮肤科杂志，2006，39(3)：146-148.
[14] Zhang XB，Wei SC，Li CX，et al.Mutation of GJB2 in a Chinese patient with keratitis-ichthyosis-deafness syndrome and brain malformation[J].Clin Exp Dermatol，2009，34(3)：309-313.
(收稿日期：2017-04-10 修回日期：2017-04-28)
(编辑：潘明志), http://www.100md.com(杨铭华 李常兴 梅晓珍)