Mutations in ENPP1 or ABCC6 cause generalized arterial calcification of infancy and pseudoxanthoma elasticum

被引：0
|
作者：
Nitschke, Y. [1 ]
Baujat, G. [2 ]
Martin, L. [3 ]
Du Moulin, M. [1 ]
Terkeltaub, R. [4 ]
Hoehne, W. [5 ]
Rutsch, F. [1 ]
机构：
[1] Univ Munster, Childrens Hosp, D-4400 Munster, Germany
[2] Hop Necker Enfants Malad, Paris, France
[3] Angers Univ Hosp, Angers, France
[4] UCSD, La Jolla, CA USA
[5] Charite, D-13353 Berlin, Germany
来源：
EUROPEAN JOURNAL OF PEDIATRICS | 2011年 / 170卷 / 02期
关键词：
D O I：
暂无
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
引用
收藏
页码：269 / 269
页数：1
相关论文
共 50 条
  • [31] Identification of ENPP1 mutations as the cause of "idiopathic" infantile arterial calcification
    Rutsch, F
    Vaingankar, S
    Ruf, N
    Nuernberg, P
    CIRCULATION, 2003, 108 (17) : 209 - 209
  • [32] Generalized arterial calcification of infancy with a novel ENPP1 mutation: a case report
    Brunod, Iole
    Tosello, Barthelemy
    Hassid, Sophie
    Gire, Catherine
    Thomachot, Laurent
    Panuel, Michel
    BMC PEDIATRICS, 2018, 18
  • [33] Generalized arterial calcification of infancy with a novel ENPP1 mutation: a case report
    Iole Brunod
    Barthélémy Tosello
    Sophie Hassid
    Catherine Gire
    Laurent Thomachot
    Michel Panuel
    BMC Pediatrics, 18
  • [34] Disseminated Arterial Calcification and Enhanced Myogenic Response Are Associated With Abcc6 Deficiency in a Mouse Model of Pseudoxanthoma Elasticum
    Kauffenstein, Gilles
    Pizard, A.
    Le Corre, Y.
    Vessieres, E.
    Grimaud, L.
    Toutain, B.
    Labat, C.
    Mauras, Y.
    Gorgels, T. G.
    Bergen, A. A.
    Le Saux, O.
    Lacolley, P.
    Leftheriotis, G.
    Henrion, D.
    Martin, L.
    ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 2014, 34 (05) : 1045 - 1056
  • [35] ABCC6 mutations in pseudoxanthoma elasticum:: an update including eight novel ones
    Plomp, Astrid S.
    Florijn, Ralph J.
    ten Brink, Jacoline
    Castle, Bruce
    Kingston, Helen
    Martin-Santiago, Ana
    Gorgels, Theo G. M. F.
    de Jong, Paulus T. V. M.
    Bergen, Arthur A. B.
    MOLECULAR VISION, 2008, 14 (15): : 118 - 124
  • [36] Molecular analysis of Pseudoxanthoma Elasticum: spectrum of ABCC6 gene mutations in the Netherlands
    Hu, X
    Plomp, A
    ten Brink, JB
    Wijnholds, J
    Schuurman, EJ
    van Soest, S
    Oud, M
    Peek, R
    Jong, PTVM
    Bergen, AAB
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2002, 43 : U569 - U569
  • [37] A novel ABCC6 variant causative of pseudoxanthoma elasticum
    Gianluca Contrò
    Rossana Tallerico
    Vincenzo Dattilo
    Fernanda Fabiani
    Maria Vittoria Enzo
    Uros Hladnik
    Stefano Dastoli
    Steven Paul Nisticò
    Emma Colao
    Nicola Perrotti
    Rodolfo Iuliano
    Human Genome Variation, 6
  • [38] Clinical Phenotypes and ABCC6 Gene Mutations in Brazilian Families with Pseudoxanthoma Elasticum
    Faria, Caroline Silverio
    Li, Qiaoli
    Guo, Haitao
    Uitto, Jouni
    Takeno, Sylvia Satomi
    Cardoso Smith, Marilia de Arruda
    Freire-Maia, Dertia Villalba
    ACTA DERMATO-VENEREOLOGICA, 2013, 93 (06) : 739 - 740
  • [39] A novel ABCC6 variant causative of pseudoxanthoma elasticum
    Contro, Gianluca
    Tallerico, Rossana
    Dattilo, Vincenzo
    Fabiani, Fernanda
    Enzo, Maria Vittoria
    Hladnik, Uros
    Dastoli, Stefano
    Nistico, Steven Paul
    Colao, Emma
    Perrotti, Nicola
    Iuliano, Rodolfo
    HUMAN GENOME VARIATION, 2019, 6 (1)
  • [40] Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets
    Lorenz-Depiereux, Bettina
    Schnabel, Dirk
    Tiosano, Dov
    Haeusler, Gabriele
    Strom, Tim M.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 86 (02) : 267 - 272
12345