Mutations in the ABCC6 Gene Can Cause Generalized Arterial Calcification of Infancy in Addition to Pseudoxanthoma Elasticum

被引：0
|
作者：
Li, Q. [1 ]
Brodsky, J. L. [2 ]
Conlin, L. [2 ]
Bradfield, J. [2 ]
Pawel, B. [2 ]
Glatz, A. [2 ]
Schurgers, L. J. [3 ]
Deardoff, M. A. [2 ]
Levine, M. [2 ]
Uitto, J. [1 ]
机构：
[1] Thomas Jefferson Univ, Jefferson Med Coll, Philadelphia, PA 19107 USA
[2] Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA
[3] Univ Maastricht, Maastricht, Netherlands
来源：
JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2012年 / 132卷
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：
515
引用
收藏
页码：S91 / S91
页数：1
相关论文
共 50 条
  • [41] ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum
    Bertamino, Marta
    Severino, Mariasavina
    Grossi, Alice
    Rusmini, Marta
    Tortora, Domenico
    Gandolfo, Carlo
    Pederzoli, Silvia
    Malattia, Clara
    Picco, Paolo
    Striano, Pasquale
    Ceccherini, Isabella
    Di Rocco, Maja
    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2018, 22 (04) : 725 - 728
  • [42] Pseudoxanthoma elasticum and retinitis pigmentosa in a patient with a novel mutation in the ABCC6 gene
    Mishra, Amit V.
    Martens, Rosanna
    MacDonald, Ian M.
    OPHTHALMIC GENETICS, 2024, 45 (01) : 108 - 111
  • [43] Pseudoxanthoma elasticum arises from mutations in an ABC transporter family member, ABCC6
    Singaraja, R
    CLINICAL GENETICS, 2000, 58 (03) : 164 - 166
  • [44] ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum
    Hu, XF
    Plomp, A
    Wijnholds, J
    ten Brink, J
    van Soest, S
    van den Born, LI
    Leys, A
    Peek, R
    de Jong, PTVM
    Bergen, AAB
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2003, 11 (03) : 215 - 224
  • [45] Bone Marrow-Derived ABCC6 Is an Essential Regulator of Ectopic Calcification In Pseudoxanthoma Elasticum
    Brampton, Christopher
    Pomozi, Viola
    Le Corre, Yannick
    Zoll, Janna
    Kauffenstein, Gilles
    Ma, Chi
    Hoffmann, Peter R.
    Martin, Ludovic
    Le Saux, Olivier
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2024, 144 (08) : 1772 - 1783.e3
  • [46] Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum
    Hu, XF
    Plomp, A
    Gorgels, T
    Ten Brink, J
    Loves, W
    Mannens, M
    De Jong, PTVM
    Bergen, AAB
    GENETIC TESTING, 2004, 8 (03): : 292 - 300
  • [47] Copy number variation in the ATP-binding cassette transporter ABCC6 gene and ABCC6 pseudogenes in patients with pseudoxanthoma elasticum
    Kringen, Marianne K.
    Stormo, Camilla
    Berg, Jens Petter
    Terry, Sharon F.
    Vocke, Christine M.
    Rizvi, Samar
    Hendig, Doris
    Piehler, Armin P.
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2015, 3 (03): : 233 - 237
  • [48] Novel mutation in ABCC6 gene in a Japanese pedigree with pseudoxanthoma elasticum and retinitis pigmentosa
    Yoshida, S
    Honda, M
    Yoshida, A
    Nakao, S
    Goto, Y
    Nakamura, T
    Fujisawa, K
    Ishibashi, T
    EYE, 2005, 19 (02) : 215 - 217
  • [49] Novel mutation in ABCC6 gene in a Japanese pedigree with pseudoxanthoma elasticum and retinitis pigmentosa
    S Yoshida
    M Honda
    A Yoshida
    S Nakao
    Y Goto
    T Nakamura
    K Fujisawa
    T Ishibashi
    Eye, 2005, 19 : 215 - 217
  • [50] Pseudoxanthoma Elasticum: A Novel Mutation in the ABCC6 Gene That Affects Eye Manifestations of the Disease
    Hesse, Richard J.
    Groetsch, Joshua
    Burshell, Alan
    OCHSNER JOURNAL, 2010, 10 (01): : 13 - 15
12345