Pseudogliomatous osteoporosis due to homozygous mutation of the LRP5 gene

被引:0
|
作者
Ramon y Cajal Calvo, Juan [1 ]
Ortiz Gimenez, Ramon [1 ]
Zamora Lozano, Marta [2 ]
机构
[1] Hosp Clin Univ Lozano Blesa, Serv Radiodiagnost, Zaragoza, Spain
[2] Hosp Clin Univ Lozano Blesa, Secc Traumatol & Cirugia Ortoped Infantil, Zaragoza, Spain
来源
ANALES DE PEDIATRIA | 2022年 / 96卷 / 05期
关键词
D O I
10.1016/j.anpedi.2021.02.017
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
[No abstract available]
引用
收藏
页码:461 / 462
页数:2
相关论文
共 50 条
  • [41] LRP5 gene single nucleotide polymorphisms and osteoporosis in children with primary glomerulonephritis treated with glucocorticoids
    Silska-Dittmar, Magdalena
    Zaorska, Katarzyna
    Malke, Anna
    Musielak, Anna
    Ostalska-Nowicka, Danuta
    Zachwieja, Jacek
    PEDIATRIC NEPHROLOGY, 2013, 28 (08) : 1501 - 1502
  • [42] Polymorphism of LRP5 gene and emphysema severity are associated with osteoporosis in Japanese patients with or at risk for COPD
    Chubachi, Shotaro
    Nakamura, Hidetoshi
    Sasaki, Mamoru
    Haraguchi, Mizuha
    Miyazaki, Masaki
    Takahashi, Saeko
    Tanaka, Kyuto
    Funatsu, Yohei
    Asano, Koichiro
    Betsuyaku, Tomoko
    RESPIROLOGY, 2015, 20 (02) : 286 - 295
  • [43] LRP5 GENE SINGLE NUCLEOTIDE POLYMORPHISMS AND OSTEOPOROSIS IN CHILDREN WITH PRIMARY GLOMERULONEPHRITIS TREATED WITH GLUCOCORTICOIDS
    Silska-Dittmar, Magdalena
    Zaorska, Katarzyna
    Malke, Anna
    Musielak, Anna
    Ostalska-Nowicka, Danuta
    Zachwieja, Jacek
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2013, 28 : 319 - 319
  • [44] Association of LRP5 gene polymorphism with type 2 diabetes mellitus and osteoporosis in postmenopausal women
    Xuan, Miao
    Wang, Yonglan
    Wang, Wenxing
    Yang, Jun
    Li, Ying
    Zhang, Xiuzhen
    INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE, 2014, 7 (01): : 247 - 254
  • [45] The LRP5 high-bone-mass G171V mutation disrupts LRP5 interaction with mesd
    Zhang, YH
    Wang, Y
    Li, XF
    Zhang, JH
    Mao, JH
    Li, Z
    Zheng, J
    Li, L
    Harris, S
    Wu, DQ
    MOLECULAR AND CELLULAR BIOLOGY, 2004, 24 (11) : 4677 - 4684
  • [46] Novel mutation in LRP5 gene cause rare osteosclerosis: cases studies and literature review
    Dichen Zhao
    Lei Sun
    Wenbin Zheng
    Jing Hu
    Bingna Zhou
    Ou Wang
    Yan Jiang
    Weibo Xia
    Xiaoping Xing
    Mei Li
    Molecular Genetics and Genomics, 2023, 298 : 683 - 692
  • [47] Osteoporosis-Pseudoglioma Syndrome: Three Novel Mutations in the LRP5 Gene and Response to Bisphosphonate Treatment
    Tuysuz, B.
    Bursali, A.
    Alp, Z.
    Suyugul, N.
    Laine, C. M.
    Makitie, O.
    HORMONE RESEARCH IN PAEDIATRICS, 2012, 77 (02): : 115 - 120
  • [48] A novel splice-site mutation in the LRP5 gene causing Familial Exudative Vitreoretinopathy
    Shafienia, Shohreh
    Mirzaei, Malihe
    Kavosi, Arghavan
    Yavarian, Majid
    GENE REPORTS, 2020, 21
  • [49] A Haplotype-Based Analysis of the LRP5 Gene in Relation to Osteoporosis Phenotypes in Spanish Postmenopausal Women
    Agueda, Lidia
    Bustamante, Mariona
    Jurado, Susana
    Garcia-Giralt, Natalia
    Ciria, Manel
    Salo, Guillem
    Carreras, Ramon
    Nogues, Xavier
    Mellibovsky, Leonardo
    Diez-Perez, Adolfo
    Grinberg, Daniel
    Balcells, Susana
    JOURNAL OF BONE AND MINERAL RESEARCH, 2008, 23 (12) : 1954 - 1963
  • [50] Novel mutation in LRP5 gene cause rare osteosclerosis: cases studies and literature review
    Zhao, Dichen
    Sun, Lei
    Zheng, Wenbin
    Hu, Jing
    Zhou, Bingna
    Wang, Ou
    Jiang, Yan
    Xia, Weibo
    Xing, Xiaoping
    Li, Mei
    MOLECULAR GENETICS AND GENOMICS, 2023, 298 (03) : 683 - 692