Genetic mutations in plectin cause lethal epidermolysis bullosa associated with pyloric atresia

被引:0
|
作者
Charlesworth, A
Spadafora, A
Le Fibelec, B
Dupuy, RP
Meneguzzi, G
机构
[1] INSERM, U634, F-75654 Paris, France
[2] Hop Larhet, Dept Dermatol, Nice, France
关键词
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
引用
收藏
页码:A106 / A106
页数:1
相关论文
共 50 条
  • [1] Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia
    Pfendner, E
    Uitto, J
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2005, 124 (01) : 111 - 115
  • [2] PYLORIC ATRESIA ASSOCIATED WITH EPIDERMOLYSIS BULLOSA
    KORBER, JS
    GLASSON, MJ
    JOURNAL OF PEDIATRICS, 1977, 90 (04): : 600 - 601
  • [3] PYLORIC ATRESIA ASSOCIATED WITH EPIDERMOLYSIS BULLOSA
    BARRAGAN, F
    MARTINSANZ, L
    ARROJO, F
    ZEITSCHRIFT FUR KINDERCHIRURGIE UND GRENZGEBIETE, 1980, 30 (04): : 360 - 364
  • [4] Pyloric Atresia Associated with Epidermolysis Bullosa
    Sahebpor, Alireza Alam
    Ghafari, Vajihe
    Shokohi, Leila
    INDIAN PEDIATRICS, 2008, 45 (10) : 849 - 851
  • [5] Congenital pyloric atresia associated with epidermolysis bullosa junctionalis: a novel lethal variant
    Reddy, M. Sai Pratap
    Anand, Rohit
    Padhi, Phalguni
    Katravath, Shirisha
    BMJ CASE REPORTS, 2024, 17 (07)
  • [6] PYLORIC ATRESIA ASSOCIATED WITH EPIDERMOLYSIS-BULLOSA
    ORENSE, M
    HERNANDEZ, JBG
    CELORIO, C
    CANGA, C
    PEDIATRIC RADIOLOGY, 1987, 17 (05) : 435 - 435
  • [7] FAMILIAL PYLORIC ATRESIA ASSOCIATED WITH EPIDERMOLYSIS BULLOSA
    DEGROOT, WG
    POSTUMA, R
    HUNTER, AGW
    JOURNAL OF PEDIATRICS, 1978, 92 (03): : 429 - 431
  • [8] FAMILIAL PYLORIC ATRESIA ASSOCIATED WITH EPIDERMOLYSIS BULLOSA
    SWINBURNE, LM
    KOHLER, HG
    JOURNAL OF PEDIATRICS, 1979, 94 (01): : 162 - 162
  • [9] Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1)
    Nakamura, H
    Sawamura, D
    Goto, M
    Nakamura, H
    McMillan, JR
    Park, S
    Kono, S
    Hasegawa, S
    Paku, S
    Nakamura, T
    Ogiso, Y
    Shimizu, H
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2005, 7 (01): : 28 - 35
  • [10] PYLORIC ATRESIA AND EPIDERMOLYSIS BULLOSA
    PEDERSEN, PV
    HERTEL, J
    JOURNAL OF PEDIATRICS, 1977, 91 (05): : 852 - 853