Blau syndrome.: Clinical presentation in a family carrying a new mutation on the CARD15 gene

被引：0
|
作者：
Arnal, C.
Arostegui, J.
Martini, N.
Barcelo, P.
Modesto, C.
机构：
[1] Hosp Gen Valle Hebron, Barcelona, Spain
[2] Hosp Clin Barcelona, Barcelona, Spain
来源：
ANNALS OF THE RHEUMATIC DISEASES | 2006年 / 65卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：446 / 446
页数：1
相关论文
共 50 条
  • [41] An Italian family carrying a new mutation in the COL4A1 gene
    Russo, A.
    Pinto, A. M.
    Lopergolo, D.
    Renieri, A.
    Battisti, C.
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2020, 414
  • [42] Clinical utility gene card for: 15q13.3 microdeletion syndrome
    Tropeano, Maria
    Andrieux, Joris
    Vassos, Evangelos
    Collier, David A.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2014, 22 (11) : 1338 - 1338
  • [43] A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members
    Milman, N.
    Ursin, K.
    Rodevand, E.
    Nielsen, F. C.
    Hansen, T. V. O.
    SCANDINAVIAN JOURNAL OF RHEUMATOLOGY, 2009, 38 (03) : 190 - 197
  • [44] The CARD15 (also known as NOD2) Gene in Crohn's Disease: Are There Implications for Current Clinical Practice?
    Colombel, Jean-Frederic
    CLINICAL GASTROENTEROLOGY AND HEPATOLOGY, 2003, 1 (01) : 5 - 9
  • [45] Blau syndrome-associated mutations in exon 4 of the caspase activating recruitment domain 15 (CARD 15) gene are not found in ethnic Danes with sarcoidosis
    Milman, Nils
    Nielsen, Finn Cilius
    Hviid, Thomas Vauvert F.
    Hansen, Thomas van Overeem
    CLINICAL RESPIRATORY JOURNAL, 2007, 1 (02): : 74 - 79
  • [46] Clinical and histopathological findings in a family with Meretoja's syndrome carrying a novel gelsolin mutation
    Mario Perezpena-Diazconti, Jose
    Cabral-Macias, Jesus
    Graue-Hernandez, Enrique O.
    Carlos Zenteno, Juan
    Chacon, Oscar
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2019, 60 (09)
  • [47] Analysis of the NOD2/CARD15 Gene in Patients Affected with the Aseptic Abscesses Syndrome with or without Inflammatory Bowel Disease
    Marc François Jean André
    Olivier Aumaître
    Jean-Charles Piette
    Gilles Grateau
    Marie-Céleste Cardoso
    Lemlih Ouchchane
    Jean-Louis Kémény
    Bernard Dastugue
    Marc Delpech
    Isabelle Creveaux
    Digestive Diseases and Sciences, 2008, 53 : 490 - 499
  • [48] A new XK gene mutation in a Japanese family with McLeod syndrome
    Ueyama, H
    Kumamoto, T
    Fujimoto, S
    Tsuda, T
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2002, 199 : S103 - S103
  • [49] Extending The Clinical Spectrum of Dejerine Sottas Syndrome: A new Family With Cognitive Impairment And Hearing Loss Carrying Trembler Mutation
    Bouchachi, Soumya
    Souayah, Nizar
    NEUROLOGY, 2019, 92 (15)
  • [50] EXTENDING THE CLINICAL SPECTRUM OF DEJERINE SOTTAS SYNDROME: A NEW FAMILY WITH COGNITIVE IMPAIRMENT AND HEARING LOSS CARRYING TREMBLER MUTATION
    Bouchachi, Soumya
    Abdulrazeq, Hael
    Sander, Howard
    Souayah, Nizar
    MUSCLE & NERVE, 2018, 58 : S91 - S91
12345