Long-term follow-up and genotype-phenotype correlations in the Dutch cohort of patients with recessive dystrophic epidermolysis bullosa

被引:0
|
作者
van den Akker, P. C. [1 ]
van Essen, A. J. [1 ]
Kraak, M. M. [1 ]
Meijer, R. [2 ]
Nijenhuis, M. [1 ]
Meijer, G. [1 ]
Hofstra, R. M. [1 ]
Pas, H. H. [1 ]
Scheffer, H. [2 ]
Jonkman, M. F. [1 ]
机构
[1] Univ Groningen, Univ Med Ctr Groningen, Groningen, Netherlands
[2] Radboud Univ Nijmegen, Med Ctr, Nijmegen, Netherlands
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:S53 / S53
页数:1
相关论文
共 50 条
  • [41] Oral rehabilitation with dental implants in patients with recessive dystrophic epidermolysis bullosa: A retrospective study with 2-15 years of follow-up
    Penarrocha-Oltra, David
    Agustin-Panadero, Ruben
    Serra-Pastor, Blanca
    Penarrocha-Diago, Maria
    Penarrocha-Diago, Miguel
    MEDICINA ORAL PATOLOGIA ORAL Y CIRUGIA BUCAL, 2020, 25 (02): : E262 - E267
  • [42] EPIDERMOLYSIS BULLOSA PRURIGINOSA ASSOCIATED WITH RECESSIVE HOMOZYGOUS MUTATIONS IN COL7A1: CASE REPORT OF A RARE EPIDERMOLYSIS BULLOSA GENOTYPE-PHENOTYPE
    O'Connor, C.
    O'Shea, S.
    McGrath, J.
    Bourke, J.
    ACTA DERMATO-VENEREOLOGICA, 2020, 100 : 54 - 55
  • [43] Genotype-Phenotype Relationship and Follow-up Analysis of a Chinese Cohort With Osteogenesis Imperfecta
    Wei, Shuoshuo
    Yao, Yangyang
    Shu, Meng
    Gao, Ling
    Zhao, Jiajun
    Li, Tianyou
    Wang, Yanzhou
    Xu, Chao
    ENDOCRINE PRACTICE, 2022, 28 (08) : 760 - 766
  • [44] Genotype-phenotype correlation in retinopathy associated with mitochondrial trifunctional protein disorders: Long-term follow-up of 21 cases
    Boese, Erin Alward
    Jain, Nieraj
    Jia, Yali
    Schlechter, Catie
    Harding, Cary
    Huang, David
    Weleber, Richard G.
    Gillingham, Melanie
    Pennesi, Mark E.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2015, 56 (07)
  • [46] Discovery of Novel Recessive Genes in a Consanguineous Cohort Using Genotype-phenotype Correlations
    Martin, K.
    Gleeson, J.
    Gregor, A.
    George, R.
    ANNALS OF NEUROLOGY, 2018, 84 : S357 - S357
  • [47] Long-term follow-up of renal transplantation in children: A Dutch cohort study
    Groothoff, JW
    Cransberg, K
    Offringa, M
    van de Kar, NJ
    Lilien, MR
    Davin, JC
    Heymans, HSA
    TRANSPLANTATION, 2004, 78 (03) : 453 - 460
  • [48] Long-term safety and efficacy of gene-corrected autologous keratinocyte grafts for recessive dystrophic epidermolysis bullosa
    So, Jodi Y.
    Nazaroff, Jaron
    Iwummadu, Chinonso, V
    Harris, Nicki
    Gorell, Emily S.
    Fulchand, Shivali
    Bailey, Irene
    McCarthy, Daniel
    Siprashvili, Zurab
    Marinkovich, M. Peter
    Tang, Jean Y.
    Chiou, Albert S.
    ORPHANET JOURNAL OF RARE DISEASES, 2022, 17 (01)
  • [49] Long-term safety and efficacy of gene-corrected autologous keratinocyte grafts for recessive dystrophic epidermolysis bullosa
    Jodi Y. So
    Jaron Nazaroff
    Chinonso V. Iwummadu
    Nicki Harris
    Emily S. Gorell
    Shivali Fulchand
    Irene Bailey
    Daniel McCarthy
    Zurab Siprashvili
    M. Peter Marinkovich
    Jean Y. Tang
    Albert S. Chiou
    Orphanet Journal of Rare Diseases, 17
  • [50] Novel and recurrent COL17A1 mutations and genotype-phenotype correlations in a large European cohort of junctional epidermolysis bullosa
    Kiritsi, D.
    Kern, J. S.
    Schumann, H.
    Has, C.
    Bruckner-Tuderman, L.
    EXPERIMENTAL DERMATOLOGY, 2009, 18 (03) : 283 - 283