Vascular manifestations and kyphoscoliosis due to a novel mutation of PLOD1 gene

被引:2
|
作者
Zieminski, Piotr [1 ,2 ,3 ]
Risse, Jessie [1 ,2 ,3 ]
Legrand, Anne [4 ,5 ,6 ]
Dufrost, Virginie [1 ,2 ,3 ]
Bal, Laurence [7 ]
Settembre, Nicla [3 ,8 ]
Malikov, Serguei [3 ,8 ]
Jeunemaitre, Xavier [4 ,5 ,6 ]
Wahl, Denis [1 ,2 ,3 ]
Zuily, Stephane [1 ,2 ,3 ]
机构
[1] Nancy Univ Hosp, Vasc Med Div, Vandoeuvre Les Nancy, France
[2] Nancy Univ Hosp, Reg Competence Ctr Rare Vasc & System Autoimmune, Vandoeuvre Les Nancy, France
[3] Univ Lorraine, INSERM, UMR S 1116, Vandoeuvre Les Nancy, France
[4] Hop Europeen Georges Pompidou, AP HP, Ctr Reference Malad Vasc Rares, Paris, France
[5] Paris Cardiovasc Res Ctr, INSERM, U970, Paris, France
[6] Univ Paris 05, Fac Med, Sorbonne Paris Cite, Paris, France
[7] La Timone Hosp, Timone Aort Ctr, Dept Vasc Surg, Marseille, France
[8] Nancy Univ Hosp, Dept Vasc Surg, Vandoeuvre Les Nancy, France
关键词
Ehlers-Danlos Syndrome; PLOD1; arterial aneurysm; arterial dissection; kyphoscoliosis; vascular fragility;
D O I
10.1080/00015385.2020.1802904
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:557 / 558
页数:2
相关论文
共 50 条
  • [41] Benign hereditary chorea due to a novel mutation of the Thyroid transcription factor-1 gene
    Salvatore, Elena
    Di Maio, Luigi
    Zampella, Emilia
    Ferrara, Massi-Miliano
    Pappatet, Sabina
    Macchia, Paolo
    De Michele, Giuseppe
    NEUROLOGY, 2008, 70 (11) : A434 - A434
  • [42] A Case of Hereditary Spherocytosis Caused by a Novel Homozygous Mutation in the SPTB Gene Misdiagnosed as β-Thalassemia Intermedia Due to a KLF1 Gene Mutation
    Yang, Kun
    Ren, Quan
    Wu, Yi
    Zhou, Yali
    Yin, Xiaolin
    HEMOGLOBIN, 2019, 43 (02) : 140 - 144
  • [43] Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations
    Adès, LC
    Sreetharan, D
    Onikul, E
    Stockton, V
    Watson, KC
    Holman, KJ
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 109 (04): : 261 - 270
  • [44] Inherited protein S deficiency due to a novel nonsense mutation in the PROS1 gene in the patient with recurrent vascular access thrombosis: A case report
    Cho, Eun Jin
    Kim, Yong Chul
    Hwang, Jin Ho
    Lee, Hajung
    Park, Sung Sup
    Kim, So Yeon
    Kim, Suhnggwon
    Chin, Ho Jun
    KIDNEY RESEARCH AND CLINICAL PRACTICE, 2012, 31 (01) : 72 - 75
  • [45] Three Patient Kindred with Novel Phenotype of Osteogenesis Imperfecta due to a Mutation in the COL1A1 gene
    Gupta, Nidhi
    Gregory, Seth
    Deyle, David
    Tebben, Peter
    JOURNAL OF BONE AND MINERAL RESEARCH, 2018, 33 : 333 - 333
  • [46] Clinical and Molecular Manifestations of Congenital Muscular Alpha-Dystroglycanopathy due to an ISPD Gene Mutation
    Gencpinar, P.
    Uyanik, G.
    Haspolat, S.
    Oygur, N.
    Duman, O.
    NEUROPHYSIOLOGY, 2019, 51 (05) : 373 - 378
  • [47] Clinical and Molecular Manifestations of Congenital Muscular Alpha-Dystroglycanopathy due to an ISPD Gene Mutation
    P. Gençpınar
    G. Uyanık
    Ş. Haspolat
    N. Oygür
    Ö. Duman
    Neurophysiology, 2019, 51 : 373 - 378
  • [48] A Novel Mutation of IGSF1 Gene
    Sotiridou, Ellada
    Schoenmakers, Nadia
    Datta, Vipan
    HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 599 - 599
  • [49] A novel MEN1 gene mutation
    Manzoni, Marco F.
    Franchi, Giulia M.
    Sartorio, Samantha Menghi
    Di Rosa, Elena
    Cappelletti, Chiara
    Piani, Cecilia
    Cattaneo, Cristina
    Ferrari, Maurizio
    Bosi, Emanuele
    Carrera, Paola
    CANCER GENETICS AND CYTOGENETICS, 2008, 180 (02) : 165 - 167
  • [50] Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation
    Di Rocco, M.
    Rusmini, M.
    Caroli, F.
    Madeo, A.
    Bertamino, M.
    Marre-Brunenghi, G.
    Ceccherini, I.
    CLINICAL GENETICS, 2018, 93 (03) : 671 - 674