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
来源：
JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2004年 / 123卷 / 05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：A90 / A90
页数：1
相关论文
共 50 条
  • [41] An intronic variant in LAMB3 contributes to junctional epidermolysis bullosa and enamel hypoplasia via translational attenuation
    Yang, Yi
    Wang, Yao
    Qin, Man
    Zhao, Yuming
    Has, Cristina
    Wang, Xin
    ARCHIVES OF ORAL BIOLOGY, 2025, 169
  • [42] Identification of a novel variant of LAMB3 in a patient with a distinct junctional epidermolysis bullosa laryngo-onycho-cutaneous syndrome phenotype
    Suvarnakar, Aashka
    Kahn, Michelle Schwartz
    Derrick, Kristina M.
    Kabir, Soodeh
    Glick, Sharon A.
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2024,
  • [43] Single nucleotide polymorphism in a commonly utilized LAMB3 primer sequence:: Implications for mutation detection and haplotype analysis in junctional epidermolysis bullosa
    Liu, Lu
    Choy, Yew Sing
    Wessagowit, Vesarat
    Ozoemena, Linda
    Dopping-Hepenstal, Patricia J. C.
    Fassihi, Hiva
    McGrath, John A.
    JOURNAL OF DERMATOLOGICAL SCIENCE, 2006, 44 (01) : 48 - 51
  • [44] Novel cryptic splice acceptor site activating mutation in the LAMB3 gene with founder effect causes serial Herlitz-type junctional epidermolysis bullosa
    Mayer, B.
    Sillo, P.
    Mazan, M.
    Pinter, D.
    Medvecz, M.
    Hatvani, Z.
    Barany, G.
    Pamjav, H.
    Karpati, S.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2014, 134 : S60 - S60
  • [45] Analysis of the LAMB3 gene in a junctional epidermolysis bullosa patient reveals exonic splicing and allele-specific nonsense-mediated mRNA decay
    Buchroithner, B
    Klausegger, A
    Ebschner, U
    Anton-Lamprecht, I
    Pohla-Gubo, G
    Lanschuetzer, CM
    Laimer, M
    Hintner, H
    Bauer, JW
    LABORATORY INVESTIGATION, 2004, 84 (10) : 1279 - 1288
  • [46] Molecular basis of non-lethal junctional epidermolysis bullosa: identification of a 38 basepair insertion and a splice site mutation in exon 14 of the LAMB3 gene
    Cserhalmi-Friedman, PB
    Baden, H
    Burgeson, RE
    Christiano, AM
    EXPERIMENTAL DERMATOLOGY, 1998, 7 (2-3) : 105 - 111
  • [47] Maternal germline mosaicism, LAMB3 hotspot mutation R635X and prenatal testing in Herlitz junctional epidermolysis bullosa
    Csikós, M
    Rácz, E
    Benko, R
    Bóna, A
    Lászik, A
    Szakács, O
    Horváth, A
    Kápáti, S
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2004, 123 (02)
  • [48] Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa (vol 106, pg 775, 1996)
    McGrath, JA
    Christiano, AM
    Pulkkinen, L
    Eady, RAJ
    Uitto, J
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1996, 106 (05) : 1156 - 1159
  • [49] A New Mouse Model of Junctional Epidermolysis Bullosa: The LAMB3 628G>A Knockin Mouse
    Hammersen, Johanna
    Hou, Jin
    Wuensche, Stephanie
    Brenner, Sven
    Winkler, Thomas
    Schneider, Holm
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2015, 135 (03) : 921 - 924
  • [50] A homozygous LAMB3 frameshift variant in junctional epidermolysis bullosa-affected Bleu du Maine sheep
    Letko, Anna
    Harkema, Liesbeth
    Peterson, Karianne
    Dijkman, Reinie
    Drogemuller, Cord
    JOURNAL OF APPLIED GENETICS, 2025,
12345