A family with osteoporosis-pseudoglioma syndrome (OPG) due to compound heterozygous mutation of the LRP5 gene.

被引：0
|
作者：
Jin, LY [1 ]
Lau, HHL [1 ]
Smith, DK [1 ]
Lau, KS [1 ]
Cheung, PT [1 ]
Kwan, EYW [1 ]
Low, L [1 ]
Chan, V [1 ]
Kung, AWC [1 ]
机构：
[1] Univ Hong Kong, Hong Kong, Hong Kong, Peoples R China
来源：
JOURNAL OF BONE AND MINERAL RESEARCH | 2004年 / 19卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：S129 / S129
页数：1
相关论文
共 50 条
  • [21] A Mutation in the Signal Sequence of LRP5 in a Family With an Osteoporosis-Pseudoglioma Syndrome (OPPG)-Like Phenotype Indicates a Novel Disease Mechanism for Trinucleotide Repeats
    Chung, Boi-Dinh
    Kayserili, Huelya
    Ai, Minrong
    Freudenberg, Jan
    Uezmcue, Abdullah
    Uyguner, Oya
    Bartels, Cynthia F.
    Hoening, Stefan
    Ramirez, Alfredo
    Hanisch, Franz-Georg
    Nuernberg, Gudrun
    Nuernberg, Peter
    Warman, Matthew L.
    Wollnik, Bernd
    Kubisch, Christian
    Netzer, Christian
    HUMAN MUTATION, 2009, 30 (04) : 641 - 648
  • [22] Osteoporosis pseudoglioma syndrome caused by a novel, homozygous, 2-base pair deletion in the LRP5 gene.
    Mumm, S
    Wenkert, D
    Hagen, J
    Whyte, P
    JOURNAL OF BONE AND MINERAL RESEARCH, 2002, 17 : S385 - S385
  • [23] Novel LRP5 to Osteoporosis Associated Variant Syndrome Pseudoglioma
    Alejandra Scaglia, Paula
    Braslavsky, Debora
    Sanguineti, Nora
    Cassinelli, Hamilton
    Ruiz Schenstrom, Olivia
    del Carmen Fernandez, Maria
    Aza Carmona, Miriam
    Nevado Blanco, Julian
    Daniel Lapunzina, Pablo
    Szlago, Marina
    Arberas, Claudia
    Elise Heath, Karen
    Rey, Rodolfo
    Bergada, Ignacio
    HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 16 - 16
  • [24] Three years follow-up of pamidronate therapy in two brothers with osteoporosis-pseudoglioma syndrome (OPPG) carrying an LRP5 mutation
    Barros, Elizabete Ribeiro
    da Silva, Magnus R. Dias
    Kunii, Ilda S.
    Lazaretti-Castro, Marise
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2008, 21 (08): : 811 - 818
  • [25] 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
  • [26] A Chinese family with primary osteoporosis probably due to a heterozygote mutation in the LRP5 gene
    Sun, Yue
    Xia, Weibo
    Li, Mei
    Jiang, Yan
    Wang, Ou
    Xing, Xiaoping
    Zhang, Zhenlin
    Meng, Xunwu
    BONE, 2008, 43 : S26 - S27
  • [27] Osteoporosis pseudoglioma syndrome caused by a novel, homozygous, 2-base pair deletion in the LRP5 gene
    Mumm, S
    Wenkert, D
    Hagen, J
    Whyte, MP
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) : 514 - 514
  • [28] Osteoporosis-pseudoglioma syndrome in four new patients: identification of two novel LRP5 variants and insights on patients' management using bisphosphonates therapy
    Abdel-Hamid, Mohamed S.
    Elhossini, Rasha M.
    Otaify, Ghada A.
    Abdel-Ghafar, Sherif F.
    Aglan, Mona S.
    OSTEOPOROSIS INTERNATIONAL, 2022, 33 (07) : 1501 - 1510
  • [29] Heterozygous Mutation in LRP5 Gene Is Associated with Osteoporosis, Metaphyseal Dysplasia and Maxillary Hypoplasia in Two Sisters
    Michou, Laetitia
    Glorieux, Francis
    Brown, Jacques
    JOURNAL OF RHEUMATOLOGY, 2010, 37 (06) : 1301 - 1301
  • [30] Osteoporosis-pseudoglioma syndrome in four new patients: identification of two novel LRP5 variants and insights on patients’ management using bisphosphonates therapy
    Mohamed S. Abdel-Hamid
    Rasha M. Elhossini
    Ghada A. Otaify
    Sherif F. Abdel-Ghafar
    Mona S. Aglan
    Osteoporosis International, 2022, 33 : 1501 - 1510
12345