Novel missense mutation in a patient with recessive pretibial epidermolysis bullosa and a mild phenotype

被引:6
|
作者
Cunningham, L. [1 ]
Liu, L. [2 ]
Menzies, S. [1 ]
McGrath, J. A. [2 ,3 ]
Lally, A. [1 ]
机构
[1] St Vincents Univ Hosp, Dept Dermatol, Dublin, Ireland
[2] St Thomas Hosp, Viapath, London, England
[3] Kings Coll London, St Johns Inst Dermatol, London, England
关键词
SKIN DISORDERS; VII COLLAGEN; THERAPIES;
D O I
10.1111/jdv.13385
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:E115 / E116
页数:2
相关论文
共 50 条
  • [1] Novel missense mutation of COL7A1 in a recessive dystrophic epidermolysis bullosa patient with mild clinical phenotype
    Yoshihara, Nagisa
    Nakano, Hajime
    Sawamura, Daisuke
    Ikeda, Shigaku
    JOURNAL OF DERMATOLOGY, 2014, 41 (10): : 939 - 940
  • [2] New missense mutation in type VII collagen in an adult with autosomal recessive pretibial epidermolysis bullosa
    Cunningham, L.
    Liu, L.
    Menzies, S.
    McGrath, J.
    Lally, A.
    BRITISH JOURNAL OF DERMATOLOGY, 2015, 173 : 84 - 85
  • [3] Late onset pretibial recessive dystrophic epidermolysis bullosa
    Mahto, A.
    Rustin, M.
    McGrath, J.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2012, 132 : S98 - S98
  • [4] Late-onset pretibial recessive dystrophic epidermolysis bullosa
    Mahto, A.
    McGrath, J. A.
    Deroide, F.
    Rustin, M. H. A.
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2013, 38 (06) : 630 - 632
  • [5] A novel recessive missense mutation in KRT14 reveals striking phenotypic heterogeneity in epidermolysis bullosa simplex
    Indelman, M
    Bergman, R
    Sprecher, E
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2005, 124 (01) : 272 - 274
  • [6] Recessive inheritance of mild epidermolysis bullosa simplex
    Szczecinska, W.
    Terron-Kwiatkowski, A.
    Baty, D.
    Moss, C.
    BRITISH JOURNAL OF DERMATOLOGY, 2010, 163 : 33 - 34
  • [7] A novel COL7A1 branch point mutation leads to a complex splicing pattern and a mild recessive dystrophic epidermolysis bullosa phenotype
    Drera, B.
    Floriddia, G.
    Forzano, F.
    Barlati, S.
    Colombi, M.
    Zambruno, G.
    Castiglia, D.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2007, 127 : S82 - S82
  • [8] Compound heterozygosity in sibling patients with recessive dystrophic epidermolysis bullosa associated with a mild phenotype
    Shibusawa, Y
    Negishi, I
    Ishikawa, O
    INTERNATIONAL JOURNAL OF DERMATOLOGY, 2006, 45 (03) : 302 - 305
  • [9] 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
  • [10] A case with recessive pretibial dystrophic epidermolysis bullosa: identification of a compound heterozygous mutation of COL7A1
    Makino, Eiichi
    Nakano, Hajimi
    Sawamura, Daisuke
    Fujimoto, Wataru
    JOURNAL OF DERMATOLOGY, 2010, 37 : 64 - 65