A MILD CASE OF DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA DIAGNOSED BY NEXT-GENERATION SEQUENCING

被引:0
|
作者
Nagai, Makoto [1 ]
Tominaga, Chiharu [1 ]
Yoshiko, Sakaguchi [1 ]
Nagai, Hiroshi [2 ]
Ohgo, Noriko
Nishigori, Chikako [2 ]
Yamanishi, Kiyofumi [1 ]
机构
[1] Hyogo Coll Med, Dept Dermatol, Nishinomiya, Hyogo, Japan
[2] Kobe Univ, Grad Sch Med, Dept Dermatol, Kobe, Hyogo, Japan
来源
JOURNAL OF DERMATOLOGY | 2014年 / 41卷
关键词
Epidermolysis bullosa; Type; 7; collagen; Mutation; Next-generation sequencing;
D O I
暂无
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
P-318
引用
收藏
页码:59 / 59
页数:1
相关论文
共 50 条
  • [31] A CASE OF EPIDERMOLYSIS-BULLOSA HEREDITARIA - DOMINANT DYSTROPHIC TYPE OF COCKAYNE AND TOURAINE
    YOTSUMOTO, S
    SETOYAMA, M
    HISADOME, H
    TASHIRO, M
    MURATA, F
    DERMATOLOGY, 1993, 186 (03) : 201 - 204
  • [32] A CASE OF RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA
    KOCABAY, K
    GUVENC, H
    OKTEN, A
    BEKTAS, S
    TURKISH JOURNAL OF PEDIATRICS, 1988, 30 (03) : 187 - 191
  • [33] Application of targeted next-generation sequencing in diagnosing atypical phenotypes and detecting novel genotypes in epidermolysis bullosa
    Mahajan, R.
    Bishnoi, A.
    Manjunath, S.
    Kumar, A.
    Handa, S.
    De, D.
    BRITISH JOURNAL OF DERMATOLOGY, 2020, 183 : 43 - 43
  • [34] Application of targeted next-generation sequencing in diagnosing atypical phenotypes and detecting novel genotypes in epidermolysis bullosa
    Mahajan, R.
    Bishnoi, A.
    Manjunath, S.
    Kumar, A.
    Handa, S.
    De, D.
    BRITISH JOURNAL OF DERMATOLOGY, 2020, 183 : 145 - 146
  • [35] Next-generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population
    Chen, Fuying
    Huang, Linting
    Li, Changcan
    Zhang, Jia
    Yang, Weiqin
    Zhang, Beibei
    Li, Huaguo
    Deng, Dan
    Liang, Jianying
    Shen, Jinwen
    Yao, Zhirong
    Li, Ming
    CLINICAL GENETICS, 2020, 98 (02) : 179 - 184
  • [36] A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa (vol 35, pg 188, 2018)
    Lucky, A. W.
    Dagaonkar, N.
    Lammers, K.
    PEDIATRIC DERMATOLOGY, 2018, 35 (05) : 732 - 735
  • [37] Epidermolysis Bullosa Nevus in a Patient With Recessive Dystrophic Epidermolysis Bullosa: A Case Report
    Fening, Katherine
    Theos, Amy
    Andea, Aleodor
    Vincent, Bethaney
    Busam, Klaus
    McKay, Kristopher
    AMERICAN JOURNAL OF DERMATOPATHOLOGY, 2014, 36 (12) : E194 - E197
  • [38] Strongyloidiasis in a Patient Diagnosed by Metagenomic Next-Generation Sequencing: A Case Report
    Qu, Junyan
    Zong, Zhiyong
    FRONTIERS IN MEDICINE, 2022, 9
  • [39] Isolated nail dystrophy suggestive of dominant dystrophic epidermolysis bullosa
    Tosti, A
    Piraccini, BM
    Scher, RK
    PEDIATRIC DERMATOLOGY, 2003, 20 (05) : 456 - 457
  • [40] COLLAGEN GENE LINKED TO DOMINANT DYSTROPHIC EPIDERMOLYSIS-BULLOSA
    KHANNA, HK
    JOURNAL OF SCIENTIFIC & INDUSTRIAL RESEARCH, 1991, 50 (09): : 697 - 697