Two novel mutations in LSS gene associated with hypotrichosis simplex in a Chinese family

被引:0
|
作者
Yang, Linfang [1 ]
Li, Shengjie [2 ]
Yao, Mengmeng [1 ]
Jiang, Shibin [1 ]
Cheng, Fang [1 ]
Jia, Xinmiao [3 ]
机构
[1] Xingtai Peoples Hosp, Dept Dermatol, Xingtai 054001, Hebei, Peoples R China
[2] Peking Union Med Coll Hosp, Biomed Engn Facil Natl Infrastruct Translat Med, Beijing, Peoples R China
[3] Peking Union Med Coll Hosp, Ctr Bioinformat, Natl Infrastruct Translat Med, Beijing, Peoples R China
关键词
D O I
10.1111/jocd.16530
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
引用
收藏
页码:4377 / 4379
页数:3
相关论文
共 50 条
  • [21] Two novel factor X gene mutations in a Chinese family with factor X deficiency
    W. Y. Au
    C. C. K. Lam
    W. C. Cheung
    Y. L. Kwong
    Annals of Hematology, 2004, 83 : 304 - 306
  • [22] Two novel factor X gene mutations in a Chinese family with factor X deficiency
    Au, WY
    Lam, CCK
    Cheung, WC
    Kwong, YL
    ANNALS OF HEMATOLOGY, 2004, 83 (05) : 304 - 306
  • [23] Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp
    van der Velden, Jaap J. A. J.
    Geel, Michel
    Engelhart, Jans J.
    Jonkman, Marcel F.
    Steijlen, Peter M.
    JOURNAL OF DERMATOLOGY, 2020, 47 (01): : 3 - 7
  • [24] One novel and two recurrent mutations in the keratin 5 gene identified in Chinese patients with epidermolysis bullosa simplex
    Tang, H. Y.
    Du, W. D.
    Cui, Y.
    Fan, X.
    Quan, C.
    Fang, Q. Y.
    Zhou, F. S.
    Yao, F. M.
    Wang, J. F.
    Yang, S.
    Zhang, X.
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2009, 34 (08) : E957 - E961
  • [25] A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp
    Dávalos, NO
    García-Vargas, A
    Pforr, J
    Dávalos, IP
    Picos-Cárdenas, VJ
    García-Cruz, D
    Kruse, R
    Figuera, LE
    Nöthen, MM
    Betz, RC
    BRITISH JOURNAL OF DERMATOLOGY, 2005, 153 (06) : 1216 - 1219
  • [26] Familial hypotrichosis simplex of the scalp associated with a novel heterozygous nonsense variant in CDSN
    Rayinda, Tuntas
    McSweeney, Sheila M.
    Lalagianni, Nikolina
    Liu, Lu
    Guy, Alyson
    Fenton, David
    Stefanato, Catherine M.
    Dand, Nick
    McGrath, John A.
    Tziotzios, Christos
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2023, 48 (05) : 579 - 583
  • [27] A Recurrent Heterozygous RPL21 Mutation Responsible for Hereditary Hypotrichosis Simplex in a Chinese Family
    Xu, Z.
    Tang, Y.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2018, 20 (06): : 901 - 901
  • [28] Two Novel CCM2 Heterozygous Mutations Associated with Cerebral Cavernous Malformation in a Chinese Family
    Qin Du
    Ziyan Shi
    Hongxi Chen
    Ying Zhang
    Jiancheng Wang
    Hongyu Zhou
    Journal of Molecular Neuroscience, 2019, 67 : 467 - 471
  • [29] Two Novel CCM2 Heterozygous Mutations Associated with Cerebral Cavernous Malformation in a Chinese Family
    Du, Qin
    Shi, Ziyan
    Chen, Hongxi
    Zhang, Ying
    Wang, Jiancheng
    Zhou, Hongyu
    JOURNAL OF MOLECULAR NEUROSCIENCE, 2019, 67 (03) : 467 - 471
  • [30] Two Novel Mutations Cause Hereditary Antithrombin Deficiency in a Chinese Family
    Zhang, Haiyue
    Liu, Siqi
    Luo, Shasha
    Jin, Yanhui
    Yang, Lihong
    Xie, Haixiao
    Pan, Jingye
    Wang, Mingshan
    ACTA HAEMATOLOGICA, 2020, 143 (03) : 260 - 265