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
来源：
JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2004年 / 123卷 / 06期
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
  • [21] PYLORIC ATRESIA AND EPIDERMOLYSIS BULLOSA - COINCIDENCE
    VALLES, MDCG
    MARTINEZCARO, A
    HERNANDEZORGAZ, A
    ANALES ESPANOLES DE PEDIATRIA, 1977, 10 (10): : 745 - 750
  • [22] EPIDERMOLYSIS BULLOSA LETALIS AND PYLORIC ATRESIA
    STORER, JS
    WICKBOLDT, L
    DONNER, F
    MILLIKAN, LE
    BLIGARD, C
    SOUTHERN MEDICAL JOURNAL, 1983, 76 (09) : P30 - P30
  • [23] Mutations in the plectin gene cause epidermolysis bullosa with muscular dystrophy.
    McLean, WHI
    Pulkkinen, L
    Smith, FJD
    Rugg, EL
    Bullrich, F
    Burgeson, RE
    Amano, S
    Hudson, DL
    Owaribe, K
    McGrath, JA
    Eady, RAJ
    Leigh, IM
    Lane, EB
    Christiano, AM
    Uitto, J
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1996, 107 (01) : HB10 - HB10
  • [24] A CASE OF PYLORIC ATRESIA ASSOCIATED WITH JUNCTIONAL EPIDERMOLYSIS-BULLOSA
    ISHIGAMI, T
    AKAISHI, K
    NISHIMURA, S
    YOKOO, T
    EUROPEAN JOURNAL OF PEDIATRICS, 1990, 149 (05) : 306 - 307
  • [25] Intracellular degradation of β4 integrin in lethal junctional epidermolysis bullosa with pyloric atresia
    Micheloni, A
    De Luca, N
    Tadini, G
    Zambruno, G
    D'Alessio, M
    BRITISH JOURNAL OF DERMATOLOGY, 2004, 151 (04) : 796 - 802
  • [26] INTEGRIN BETA-4 MUTATIONS ASSOCIATED WITH JUNCTIONAL EPIDERMOLYSIS-BULLOSA WITH PYLORIC ATRESIA
    VIDAL, F
    ABERDAM, D
    MIQUEL, C
    CHRISTIANO, AM
    PULKKINEN, L
    UITTO, J
    ORTONNE, JP
    MENEGUZZI, G
    NATURE GENETICS, 1995, 10 (02) : 229 - 234
  • [27] Two novel mutations in the PLEC gene in a subject with non-lethal epidermolysis bullosa simplex with pyloric atresia
    Sansovic, Ivona
    Vulin, Katarina
    Odak, Ljubica
    Pohovski, Leona Morozin
    Samadan, Lara
    Murat-Susic, Slobodna
    Bulic, Suzana Ozanic
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 139 - 139
  • [28] Lethal autosomal recessive epidermolysis bullosa simplex with bowel atresia due to a novel plectin mutation
    Lichtenstein, D. A.
    Browne, F.
    Daly, B. M.
    Liu, L.
    McGrath, J. A.
    Moss, C.
    BRITISH JOURNAL OF DERMATOLOGY, 2012, 167 : 131 - 132
  • [29] The phenotypic spectrum of plectin mutations in epidermolysis bullosa
    Pfendner, E
    Rouan, F
    Uitto, J
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2005, 124 (04) : A85 - A85
  • [30] JUNCTIONAL EPIDERMOLYSIS BULLOSA (HERLITZ) AND PYLORIC ATRESIA
    MULLER, H
    BODE, H
    KRONE, C
    ANTONLAMPRECHT, I
    ORLOWSKA, M
    HELVETICA PAEDIATRICA ACTA, 1989, 43 (5-6) : 457 - 466
12345