Vascular Ehlers Danlos syndrome as part of 2q32.2q33.1 microdeletion syndrome

被引：0
|
作者：
Green, C. [1 ]
Hobson, E. [2 ]
Radley, J. [3 ]
Williams, D. [3 ]
Johnson, D. [1 ]
机构：
[1] Sheffield Clin Genet, Sheffield, S Yorkshire, England
[2] Yorkshire Reg Genet Serv, Leeds, W Yorkshire, England
[3] West Midlands Clin Genet Serv, Birmingham, W Midlands, England
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2018年 / 26卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P04.22B
引用
收藏
页码：227 / 227
页数：1
相关论文
共 50 条
  • [1] Specific behavioural phenotype and secondary cognitive decline as a result of an 8.6Mb deletion of 2q32.2q33.1
    Kumperscak, Hojka Gregoric
    Krgovic, Danijela
    Vokac, Nadja Kokalj
    JOURNAL OF INTERNATIONAL MEDICAL RESEARCH, 2016, 44 (02) : 395 - 402
  • [2] A Chinese patient with KBG syndrome and a 9q31.2-33.1 microdeletion
    Xu, Mingzhi
    Zhou, Huali
    Yong, Jing
    Cong, Peikuan
    Li, Chengjiang
    Yu, Yunsong
    Qi, Ming
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2013, 56 (05) : 245 - 250
  • [3] Vascular ehlers-danlos syndrome
    Agaoglu, N.
    Demirkol, Y. Kendir
    Dogan, O. Akgun
    Say, M.
    Akgun, T. Kizilboga
    Doganay, H.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1279 - 1279
  • [4] Vascular Ehlers-Danlos syndrome
    Perdu, Jerome
    Boutouyrie, Pierre
    Lahlou-Laforet, Khadija
    Van Kien, Philippe Khau
    Denarie, Nicolas
    Mousseaux, Elie
    Sapoval, Marc
    Julia, Pierre
    Zinzindohoue, Frank
    Touraine, Philippe
    Dumez, Yves
    Trystram, Denis
    Vignal-Clermont, Catherine
    Gimenez-Roqueplo, Anne-Paule
    Jeunemaitre, Xavier
    Fiessinger, Jean-Noel
    PRESSE MEDICALE, 2006, 35 (12): : 1864 - 1875
  • [5] Vascular Ehlers-Danlos syndrome
    Germain, DP
    Herrera-Guzman, Y
    ANNALES DE GENETIQUE, 2004, 47 (01): : 1 - 9
  • [6] The vascular Ehlers-Danlos syndrome
    Germain D.P.
    Current Treatment Options in Cardiovascular Medicine, 2006, 8 (2) : 121 - 127
  • [7] 2 VASCULAR COMPLICATIONS OF THE EHLERS-DANLOS SYNDROME
    BREARLEY, S
    FOWLER, J
    HAMER, JD
    EUROPEAN JOURNAL OF VASCULAR SURGERY, 1993, 7 (02): : 210 - 213
  • [8] Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome
    de Ravel, Thomy J.
    Balikova, Irina
    Thiry, Paul
    Vermeesch, Joris R.
    Frijns, Jean-Pierre
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2009, 52 (2-3) : 120 - 122
  • [9] Pharmacotherapy: Vascular Ehlers-Danlos syndrome
    Osório J.
    Nature Reviews Cardiology, 2010, 7 (12) : 664 - 664
  • [10] Complications of vascular Ehlers-Danlos syndrome
    Fukaya, Eri
    Kumar, Gayatri Suresh
    Pariani, Mitchel
    Liang, David H.
    VASCULAR MEDICINE, 2022, 27 (06) : NP3 - NP3
12345