[1] |
Wang Li, Ren Zengguo, Lou Guiyu, Zhang Yuwei, Yang Ke, Lei Xingxing, Zhang Bing, Liao Shixiu, Hao Bingtao.
Genetic diagnosis in two families with dystrophic epidermolysis bullosa
[J]. Chinese Journal of Dermatology, 2023, 56(8): 770-773.
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[2] |
Song Deyu, Wang Jiayue, Geng Jia, Zou Meirong, Li Zhongtao, Chen Yusha, Wang Sheng.
A case of classical Vohwinkel syndrome caused by the mutation p.N54H in the GJB2 gene
[J]. Chinese Journal of Dermatology, 2023, 56(7): 669-672.
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[3] |
Li Xiangqian, Zhao Yongping, Zhao Mengxi, Zhou Cheng.
A novel mutation in the LSS gene caused congenital hypotrichosis type 14 in a Chinese family
[J]. Chinese Journal of Dermatology, 2023, 56(7): 672-676.
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[4] |
Sun Yujiao, Wang Jianbo, Duan Ziyu, Dou Jinfa, Li Yan, Li Jianguo, Zhang Shoumin.
Detection of ATP2C1 gene mutations in a family with generalized familial benign chronic pemphigus
[J]. Chinese Journal of Dermatology, 2023, 56(4): 335-337.
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[5] |
Yang Yongting, Li Tingting, Kang Xiaojing.
Biomarkers related to the treatment of melanoma with immune checkpoint inhibitors
[J]. Chinese Journal of Dermatology, 2023, 56(3): 278-283.
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[6] |
Yu Ling, Dou Jinfa, Wang Jianbo, Zhang Shoumin.
Gene mutation analysis in a Chinese pedigree with autosomal dominant Waardenburg syndrome
[J]. Chinese Journal of Dermatology, 2023, 56(3): 241-243.
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[7] |
Duan Ziyu, Duan Xiaojun, Xue Chenhong, Zhang Shoumin, Li Zhenlu, Li Jianguo, Wang Jianbo.
Genetic variation analysis in three cases of piebaldism and analysis of the genotype-phenotype relationships
[J]. Chinese Journal of Dermatology, 2023, 0(3): 20220380-e20220380.
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[8] |
Wang Jiancai, Gao Ying, Liu Xiaoyan.
Analysis of pathogenic genes in two cases of Sjogren-Larsson syndrome
[J]. Chinese Journal of Dermatology, 2022, 55(9): 803-805.
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[9] |
Yang Zhou, Xu Zhe, Wang Zhaoyang, Chen Yunliu, Ma Lin.
TP63 gene mutation analysis in a case of ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
[J]. Chinese Journal of Dermatology, 2022, 55(8): 696-699.
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[10] |
Liu Yihe, Chen Zhiming, Feng Suying, Yang Yong.
A case of ADULT syndrome without finger/toe deformities caused by a TP63 mutation
[J]. Chinese Journal of Dermatology, 2022, 55(8): 709-712.
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[11] |
Yan Na, Liu Yan, Li Huajun, Li Yang, Tan Xuanfeng, Yang Yi, Jin Liang.
Hereditary hemorrhagic telangiectasia complicated by aortic sinus aneurysm caused by a pathogenic mutation in the ACVRL1 gene: a family survey
[J]. Chinese Journal of Dermatology, 2022, 55(8): 716-720.
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[12] |
Dong Liping, Cai Xinying, Xiao Fengli.
Diagnosis of acanthosis nigricans in a family by targeted sequencing
[J]. Chinese Journal of Dermatology, 2022, 55(8): 693-695.
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[13] |
Liu Chenmei, Chen Hongyu, Chen Pingjiao, Zeng Kang, Li Changxing.
Identification of pathogenic genes in a family with oculocutaneous albinism
[J]. Chinese Journal of Dermatology, 2022, 55(8): 706-709.
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[14] |
Yang Zhou, Xu Zhe, Wang Shan, Xu Jiaosheng, Han Xiaofeng, Ma Lin.
Mutation analysis of the COL7A1 gene in 4 cases of recessive dystrophic epidermolysis bullosa
[J]. Chinese Journal of Dermatology, 2022, 55(8): 653-658.
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[15] |
Wang Jianbo, Zhang Shuai, Shao Yi, Dou Jinfa, Wang Chen, Zhang Shoumin, Li Zhenlu.
Mutation analysis of the ADAR gene in two cases of dyschromatosis symmetrica hereditaria and a survey of their families
[J]. Chinese Journal of Dermatology, 2022, 55(8): 690-692.
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