Dental alterations in junctional epidermolysis bullosa: report of a patient with a mutation in the LAMB3 gene

被引:0
|
作者
Sadler, E
Diem, A
Klausegger, A
Lanschuetzer, CM
Pohla-Gubo, G
Muss, W
Hachleitner, J
Hintner, H
Bauer, JW
机构
[1] Private Med Univ Salzburg, Dept Dermatol, Salzburg, Austria
[2] Private Med Univ Salzburg, Inst Pathol Anat, Salzburg, Austria
[3] Private Med Univ Salzburg, Dept Oral & Maxillofacial Surg, Salzburg, Austria
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:A90 / A90
页数:1
相关论文
共 50 条
  • [21] Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
    Wang, Wei
    Guo, Qiang
    Chen, Jinshan
    Zhang, Xi
    Li, Chengyong
    Li, Shuangping
    Liang, Jialin
    Hao, Chuan
    Wang, Jingqi
    FRONTIERS IN GENETICS, 2022, 13
  • [22] Herlitz junctional epidermolysis bullosa: Novel and recurrent mutations in the LAMB3 gene and the population carrier frequency
    Nakano, A
    Pfendner, E
    Pulkkinen, L
    Hashimoto, I
    Uitto, J
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2000, 115 (03) : 493 - 498
  • [23] Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa
    Castori, Marco
    Floriddia, Giovanna
    Pisaneschi, Elisa
    Covaciu, Claudia
    Paradisi, Mauro
    Torrente, Isabella
    Castiglia, Daniele
    JOURNAL OF DERMATOLOGICAL SCIENCE, 2008, 51 (01) : 58 - 61
  • [24] Gentamicin induces LAMB3 nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa
    Lincoln, Vadim
    Cogan, Jon
    Hou, Yingping
    Hirsch, Michaela
    Hao, Michelle
    Alexeev, Vitali
    De Luca, Michele
    De Rosa, Laura
    Bauer, Johann W.
    Woodley, David T.
    Chen, Mei
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2018, 115 (28) : E6536 - E6545
  • [25] Targeted next-generation sequencing identifies a novel mutation of LAMB3 in a Chinese neonatal patient presented with junctional epidermolysis bullosa
    Wang, Hairong
    Yang, Yun
    Zhou, Jieqiong
    Cao, Jiangxia
    He, Xuelian
    Li, Long
    Gao, Shuyang
    Mao, Bing
    Tian, Ping
    Zhou, Aifen
    MEDICINE, 2018, 97 (49)
  • [26] A HOMOZYGOUS NONSENSE MUTATION IN THE BETA-3 CHAIN GENE OF LAMININ-5 (LAMB3) IN HERLITZ JUNCTIONAL EPIDERMOLYSIS-BULLOSA
    PULKKINEN, L
    CHRISTIANO, AM
    GERECKE, D
    WAGMAN, DW
    BURGESON, RE
    PITTELKOW, MR
    UITTO, J
    GENOMICS, 1994, 24 (02) : 357 - 360
  • [27] Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa
    Posteraro, P
    Sorvillo, S
    Gagnoux-Palacios, L
    Angelo, C
    Paradisi, M
    Meneguzzi, G
    Castiglia, D
    Zambruno, G
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1998, 243 (03) : 758 - 764
  • [28] Novel LAMB3 variants in two Asian patients and an overview of LAMB3 variants associated with generalized intermediate junctional epidermolysis bullosa
    Tan, Ene-Choo
    Diana, Inne Arline
    Wei, Heming
    Gondokaryono, Srie Prihianti
    Dwiyana, Reiva Farah
    Yogya, Yuri
    Rahardja, July Iriani
    Koh, Mark Jean-Aan
    AUSTRALASIAN JOURNAL OF DERMATOLOGY, 2022, 63 (04) : E365 - E369
  • [29] Identification of the LAMB3 hotspot mutation R635X in a Hungarian case of Herlitz junctional epidermolysis bullosa
    Cserhalmi, PB
    Horvath, A
    Boros, V
    Sapi, Z
    Kormendi, M
    Christiano, AM
    Karpati, S
    EXPERIMENTAL DERMATOLOGY, 1997, 6 (02) : 70 - 74
  • [30] CRISPR/Cas9-Mediated In Situ Correction of LAMB3 Gene in Keratinocytes Derived from a Junctional Epidermolysis Bullosa Patient
    Benati, Daniela
    Miselli, Francesca
    Cocchiarella, Fabienne
    Patrizi, Clarissa
    Carretero, Marta
    Baldassarri, Samantha
    Ammendola, Virginia
    Has, Cristina
    Colloca, Stefano
    Del Rio, Marcela
    Larcher, Fernando
    Recchia, Alessandra
    MOLECULAR THERAPY, 2018, 26 (11) : 2592 - 2603