Case of X-linked hypohidrotic ectodermal dysplasia with a novel EDA missense mutation

被引:5
|
作者
Yasuda, Masahito [1 ]
Kishi, Chikako [1 ]
Yokoyama, Yoko [1 ]
Amano, Hiroo [1 ]
Ishikawa, Osamu [1 ]
机构
[1] Gunma Univ, Grad Sch Med, Dept Dermatol, Maebashi, Gunma 3718511, Japan
来源
JOURNAL OF DERMATOLOGY | 2015年 / 42卷 / 09期
关键词
D O I
10.1111/1346-8138.12959
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:907 / 908
页数:2
相关论文
共 50 条
  • [21] Missense mutation of the EDA gene in a Jordanian family with X-linked hypohidrotic ectodermal dysplasia: phenotypic appearance and speech problems
    Khabour, O. F.
    Mesmar, F. S.
    Al-Tamimi, F.
    Al-Batayneh, O. B.
    Owais, A. I.
    GENETICS AND MOLECULAR RESEARCH, 2010, 9 (02) : 941 - 948
  • [22] A Missense Mutation in the Collagen Triple Helix of EDA Is Associated with X-Linked Recessive Hypohidrotic Ectodermal Dysplasia in Fleckvieh Cattle
    Reinartz, Sina
    Weiss, Christine
    Heppelmann, Maike
    Hewicker-Trautwein, Marion
    Hellige, Maren
    Willen, Laure
    Feige, Karsten
    Schneider, Pascal
    Distl, Ottmar
    GENES, 2024, 15 (01)
  • [23] FINE MAPPING OF THE X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA LOCUS (EDA)
    ZONANA, J
    JONES, M
    BROWNE, D
    KRAMER, P
    LITT, M
    BARKER, D
    CLARKE, A
    THOMAS, NST
    HARPER, PS
    AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 49 (04) : 209 - 209
  • [24] FINE MAPPING OF THE X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA LOCUS (EDA)
    ZONANA, J
    JONES, M
    KRAMER, P
    BROWNE, D
    THOMAS, NS
    CLARKE, A
    BARKER, D
    LITT, M
    CYTOGENETICS AND CELL GENETICS, 1991, 58 (3-4): : 2091 - 2092
  • [25] Hypohidrotic ectodermal dysplasia caused by a missense mutation in the EDA gene
    Fujimoto, Atsushi
    Farooq, Muhammad
    Sato, Nobuyuki
    Masui, Yukiko
    Fujikawa, Hiroki
    Ito, Masaaki
    Shimomura, Yutaka
    EUROPEAN JOURNAL OF DERMATOLOGY, 2011, 21 (05) : 801 - 803
  • [26] Mutation Screening of the EDA Gene in Seven Chinese Families with X-Linked Hypohidrotic Ectodermal Dysplasia
    Liu, Yanshan
    Huang, Yingzhi
    Hua, Rui
    Zhao, Xiuli
    Yang, Wei
    Liu, Yaping
    Zhang, Xue
    GENETIC TESTING AND MOLECULAR BIOMARKERS, 2018, 22 (08) : 487 - 491
  • [27] Three novel mutations of the EDA gene in Chinese patients with X-linked hypohidrotic ectodermal dysplasia
    Zhao, J.
    Hua, R.
    Zhao, X.
    Meng, Y.
    Ao, Y.
    Liu, Q.
    Shang, D.
    Sun, M.
    Lo, W. H-Y.
    Zhang, X.
    BRITISH JOURNAL OF DERMATOLOGY, 2008, 158 (03) : 614 - 617
  • [28] A frameshift variant in the EDA gene in Dachshunds with X-linked hypohidrotic ectodermal dysplasia
    Rasouliha, S. Hadji
    Bauer, A.
    Dettwiler, M.
    Welle, M. M.
    Leeb, T.
    ANIMAL GENETICS, 2018, 49 (06) : 651 - 654
  • [29] A novel frameshift mutation of the EDA1 gene in a Chinese Han family with X-linked hypohidrotic ectodermal dysplasia
    Zhang, H.
    Quan, C.
    Sun, L. -D.
    Lv, H. -L.
    Gao, M.
    Zhou, F. -S.
    Xiao, F. -L.
    Fang, Q. -Y.
    Shen, Y. -J.
    Zhou, L.
    Yang, S.
    Zhang, X. -J.
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2009, 34 (01) : 74 - 76
  • [30] Mutation analysis of X-linked hypohidrotic ectodermal dysplasia in a Taiwanese family
    Chao, SC
    Chung, CH
    Yang, CC
    Yang, MH
    Lee, JYY
    JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION, 2003, 102 (06) : 412 - 417