[1] |
BAI Qianqian, LIN Zhimiao.
Mutation analysis and prenatal diagnosis in two cases with segmental neurofibromatosis type 1
[J]. China Journal of Leprosy and Skin Diseases, 2024, 40(2): 81-84.
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[2] |
FENG Xiaoyan, LU Xinxin, BI Tiantian, LI Qinfeng.
Keratitis ichthyosis deafness syndrome caused by GJB2 gene mutation
[J]. China Journal of Leprosy and Skin Diseases, 2023, 39(6): 423-425.
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[3] |
Zulihumaer·Mosha, Buwajieer·Yakeya, LIU Jianyong, KANG Xiaojing.
Malignant peripheral nerve sheath tumors with neurofibromatosis type 1: a case report
[J]. China Journal of Leprosy and Skin Diseases, 2023, 39(4): 272-274.
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[4] |
QI Sisi, MIAO Ying, XU Feng, SHENG Youyu, HU Ruiming, ZHAO Jun, ZHOU Lijuan, YANG Qinping.
Mutation of APCDD1 gene in a family with hereditary hypotrichosis simplex
[J]. China Journal of Leprosy and Skin Diseases, 2023, 39(12): 859-863.
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[5] |
CHOU Mengwei, HAO Yangyang, LIAN Weiwei, CHEN Xi, YANG Jianqiang.
Gene mutation analysis of three cases with porokeratosis
[J]. China Journal of Leprosy and Skin Diseases, 2023, 39(12): 864-867.
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[6] |
LU Qiaoyun, JIANG Beixue, WANG Chong, YANG Fang.
Mutation analysis of LEOPARD syndrome by whole exome sequencing
[J]. China Journal of Leprosy and Skin Diseases, 2023, 39(11): 796-799.
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[7] |
SUN Zhe, WU Zhe, YAO Zhirong.
Update of genes and phenotypes of autosomal recessive congenital ichthyosis
[J]. China Journal of Leprosy and Skin Diseases, 2023, 39(11): 840-844.
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[8] |
ZHU Yu, WU Wei, XIE Jinying, ZHOU Shunting, HUANG Minjia, LUO Zhiqiang, ZHOU Shuwen.
Mutation analysis of COL7A1 gene in dominant epidermolysis bullosa
[J]. China Journal of Leprosy and Skin Diseases, 2022, 38(9): 607-613.
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[9] |
WANG Xinyi, LI Ming.
Update of Nagashima-type palmoplantar keratosis's
[J]. China Journal of Leprosy and Skin Diseases, 2022, 38(9): 646-649.
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[10] |
MA Liwen, ZENG Ni, LUO Dan.
Mutation of the related gene in a family with amyloidosis cutis dyschromica after puberty
[J]. China Journal of Leprosy and Skin Diseases, 2022, 38(8): 513-517.
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[11] |
WEI Tengchao, WANG Zhenzhen, SUN Lele, FU Xian, CHEN Shengli, WANG Jianwen, ZHANG Furen, LIU Hong.
Exon sequencing combined with somatic mutations detection identified 8 mutations in patients with prokeratosis
[J]. China Journal of Leprosy and Skin Diseases, 2022, 38(7): 425-429.
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[12] |
MIAO Mengyu, WANG Zhenzhen, SUN Lele, LIU Hong, ZHANG Furen.
One novel mutation of the NCSTN gene in one acne inversa family
[J]. China Journal of Leprosy and Skin Diseases, 2021, 37(8): 486-489.
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[13] |
MA Panpan, ZHANG Chuan, WANG Xing, LIU Furong, HAO Shengju, ZHANG Qinghua, CHEN Xue, ZHOU Bingbo, SUN Qingmei.
Detection of NF1 gene mutation in three patients with neurofibromatosis type 1
[J]. China Journal of Leprosy and Skin Diseases, 2021, 37(4): 204-207.
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[14] |
YU Xueping, SUN Yonghu, SHI Zhongxiang, ZHOU Guizhi, LIU Hong, ZAHNG Furen.
Mutation of KRT1 and KRT10 genes in a patient with congenital bullous ichthyosiform erythroderma
[J]. China Journal of Leprosy and Skin Diseases, 2021, 37(3): 140-142.
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[15] |
ZHANG Wenqing, YU Xia, LI Ming, YAO Zhirong.
Update of gene mutations associated with Juvenile Xanthogranuloma
[J]. China Journal of Leprosy and Skin Diseases, 2020, 36(2): 117-121.
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