A Chinese family with primary osteoporosis probably due to a heterozygote mutation in the LRP5 gene

被引：0
|
作者：
Sun, Yue [1 ]
Xia, Weibo [1 ]
Li, Mei [1 ]
Jiang, Yan [1 ]
Wang, Ou [1 ]
Xing, Xiaoping [1 ]
Zhang, Zhenlin [2 ]
Meng, Xunwu [1 ]
机构：
[1] Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Endocrinol, Beijing, Peoples R China
[2] Shanghai Jiao Tong Univ, Sch Med, Shanghai, Peoples R China
来源：
BONE | 2008年 / 43卷
关键词：
D O I：
10.1016/j.bone.2008.07.023
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：S26 / S27
页数：2
相关论文
共 50 条
  • [1] Pseudogliomatous osteoporosis due to homozygous mutation of the LRP5 gene
    Ramon y Cajal Calvo, Juan
    Ortiz Gimenez, Ramon
    Zamora Lozano, Marta
    ANALES DE PEDIATRIA, 2022, 96 (05): : 461 - 462
  • [2] Osteoporosis pseudoglioma: A novel mutation in gene LRP5
    Barros, E. R.
    Kunii, I. S.
    Hauache, O. M.
    Lazaretti-Castro, M.
    OSTEOPOROSIS INTERNATIONAL, 2006, 17 : S344 - S344
  • [3] A family with osteoporosis-pseudoglioma syndrome (OPG) due to compound heterozygous mutation of the LRP5 gene.
    Jin, LY
    Lau, HHL
    Smith, DK
    Lau, KS
    Cheung, PT
    Kwan, EYW
    Low, L
    Chan, V
    Kung, AWC
    JOURNAL OF BONE AND MINERAL RESEARCH, 2004, 19 : S129 - S129
  • [4] Osteoporosis, Fractures, and Blindness Due to a Missense Mutation in the LRP5 Receptor
    Littman, Jake
    Phornphutkul, Chanika
    Saade, Celine
    Katarincic, Julia
    Aaron, Roy
    ORTHOPEDIC RESEARCH AND REVIEWS, 2023, 15 : 39 - 45
  • [5] Mutation analysis of the LRP5 gene in men with idiopathic osteoporosis.
    Crabbe, P
    Willaert, A
    Van Pottelbergh, I
    Coucke, P
    Goemaere, S
    De Paepe, A
    Kaufman, J
    JOURNAL OF BONE AND MINERAL RESEARCH, 2004, 19 : S247 - S247
  • [6] Osteoporosis pseudoglioma syndrome: A novel LRP5 mutation
    Levasseur, R
    Allanore, Y
    Fadel, MA
    Varret, M
    Marques, A
    Cormier, C
    Kahan, A
    Boileau, C
    BONE, 2005, 36 : S397 - S398
  • [7] A novel mutation in the LRP5 gene is associated with osteoporosis-pseudoglioma syndrome
    E. R. Barros
    M. R. Dias da Silva
    I. S. Kunii
    O. M. Hauache
    M. Lazaretti-Castro
    Osteoporosis International, 2007, 18 : 1017 - 1018
  • [8] A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene
    Cheung, W. M. W.
    Jin, L. Y.
    Smith, D. K.
    Cheung, P. T.
    Kwan, E. Y. W.
    Low, L.
    Kung, A. W. C.
    BONE, 2006, 39 (03) : 470 - 476
  • [9] A Rare De Novo Mutation In Lrp5 Gene In An Adolescent Female With Juvenile Onset Primary Osteoporosis
    Shum, Betty
    Ryabets-Lienhard, Anna
    Cheung, Clement
    JOURNAL OF BONE AND MINERAL RESEARCH, 2020, 35 : 108 - 108
  • [10] Osteoporosis pseudoglioma syndrome: A novel LRP5 mutation
    Levasseur, R
    Allanore, Y
    Fadel, MA
    Varret, M
    Marques, A
    Allard, D
    Cormier, C
    Kahan, A
    Boileau, C
    ANNALS OF THE RHEUMATIC DISEASES, 2005, 64 : 529 - 529
12345