[1] |
liuLiu Fei, Yang Suhong, Wang Liqiong, Guo Cuiping, Chen Junsong.
A case of poikiloderma with neutropenia and mutation analysis of the USB1 gene
[J]. Chinese Journal of Dermatology, 2020, 53(4): 251-254.
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[2] |
Yang Zhou, Xu Zhe, Jiao Lei, Wang Shan, Ma Lin.
Mutation analysis of the ERCC2 and ERCC5 genes in two cases of xeroderma pigmentosum
[J]. Chinese Journal of Dermatology, 2020, 53(4): 266-270.
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[3] |
Chen Zhiming, Wang Xiaopo, Sun Jianfang, Yang Yong.
Gene mutation analysis in a family with Legius syndrome firstly reported in China
[J]. Chinese Journal of Dermatology, 2020, 53(4): 255-258.
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[4] |
Wu Wei, Zheng Luyao, Pan Chaolan, Yang Ting, Li Ming.
Novel desmoplakin mutations in a child with Carvajal syndrome
[J]. Chinese Journal of Dermatology, 2020, 53(4): 271-274.
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[5] |
Yu Yueqian, Bao Fangfang, Liu Hong, Zhang Furen.
A case of epidermolysis bullosa caused by mutations in the COL7A1 and PLEC genes firstly reported in China
[J]. Chinese Journal of Dermatology, 2020, 53(4): 275-278.
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[6] |
Yang Yong.
Single-gene skin disease research: past, present and prospect
[J]. Chinese Journal of Dermatology, 2020, 53(4): 244-247.
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[7] |
Li Yunling, Zheng Huiwen, Li Yin, Zhu Kun, Gu Weizhong, Li Wei, Guo Xiaoxuan, Huang Chunlan, Zhou Sha, Wu Wei, Dong Guanping.
Clinical characteristics and genetic analysis of two cases of pseudohypoparathyroidism typeⅠa with early-onset skin nodules as the diagnostic clue
[J]. Chinese Journal of Dermatology, 2020, 53(3): 220-222.
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[8] |
Li Yunling, Zheng Huiwen, Li Yin, Wang Lihua, Li Wei, Guo Xiaoxuan, Huang Chunlan, Zhou Sha, Lyu Zhongfa.
A case of ichthyosis follicularis, atrichia and photophobia syndrome caused by a novel mutation in the MBTPS2 gene
[J]. Chinese Journal of Dermatology, 2020, 53(2): 98-101.
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[9] |
Li Siyuan, Liu Tingting, Yang Shuxia, Ma Shengqing, Yang Yong.
Identification of a novel mutation in the BCS1L gene causing Bjornstad syndrome
[J]. Chinese Journal of Dermatology, 2020, 53(2): 93-97.
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[10] |
Lou Guiyu, Yang Ke, Zhang Yuwei, Qin Litao, Qi Na, Chen Jing, Liao Shixiu.
A case of hyaline fibromatosis syndrome caused by compound heterozygous mutations in the ANTXR2 gene
[J]. Chinese Journal of Dermatology, 2020, 0(0): 20190450-20190450.
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[11] |
Zhou Pengjun, Wang Baoxi, Lin Lihang, Xiao Xuemin.
γ-Secretase mutations in acne inversa
[J]. Chinese Journal of Dermatology, 2019, 52(9): 656-659.
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[12] |
Wang Xia, Yang Ge, Li Ling, Wei Rongfang, Xiong Chunping.
Mutation analysis of the typeⅡhair keratin gene in a family of Han nationality with monilethrix
[J]. Chinese Journal of Dermatology, 2019, 52(8): 561-564.
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[13] |
Pan Yuxue, Yang Yong, Lin Zhimiao.
Mosaic mutation in the NEMO gene causes incontinentia pigmenti in a male patient
[J]. Chinese Journal of Dermatology, 2019, 52(7): 450-454.
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[14] |
Ren Yinghao, Chen Chen, Cao Ruixiang, Li Xin, Zhang Jiang′an, Li Xiaohong, Zhang Bei, Yu Jianbin, Kong Xiangdong.
Desmoglein 4 gene mutation analysis in a pedigree with autosomal recessive hereditary monilethrix
[J]. Chinese Journal of Dermatology, 2019, 52(12): 907-910.
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[15] |
ling yunli Yin Li hua liwang xuan xiaoguo lan chunhuang Sha Zhou wen xinhuang.
A case of multiple carboxylase deficiency presenting with skin lesions as the initial symptom induced by a novel mutation in the holocarboxylase synthetase gene
[J]. Chinese Journal of Dermatology, 2019, 52(11): 829-832.
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