Further evidence that fibroblast growth factor receptor 2 mutations cause Antley-Bixler syndrome

被引：0
|
作者：
Tsai, FJ
Wu, JY
Yang, CF
Tsai, CH
机构：
[1] China Med Coll Hosp, Dept Med Genet, Taichung 404, Taiwan
[2] China Med Coll Hosp, Dept Pediat, Taichung 404, Taiwan
[3] China Med Coll Hosp, Dept Med Res, Taichung 404, Taiwan
来源：
ACTA PAEDIATRICA | 2001年 / 90卷 / 05期
关键词：
D O I：
暂无
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
引用
收藏
页码：595 / 597
页数：3
相关论文
共 50 条
  • [41] Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome
    Lomri, A
    Lemonnier, J
    Hott, M
    de Parseval, N
    Lajeunie, E
    Munnich, A
    Renier, D
    Marie, PJ
    JOURNAL OF CLINICAL INVESTIGATION, 1998, 101 (06): : 1310 - 1317
  • [42] MUTATIONS IN THE 3RD IMMUNOGLOBULIN DOMAIN OF THE FIBROBLAST GROWTH-FACTOR RECEPTOR-2 GENE IN CROUZON SYNDROME
    OLDRIDGE, M
    WILKIE, AOM
    SLANEY, SF
    POOLE, MD
    PULLEYN, LJ
    RUTLAND, P
    HOCKLEY, AD
    WAKE, MJC
    GOLDIN, JH
    WINTER, RM
    REARDON, W
    MALCOLM, S
    HUMAN MOLECULAR GENETICS, 1995, 4 (06) : 1077 - 1082
  • [43] Fibroblast growth factor receptor 2 IIIb invalidation - A potential cause of familial duodenal atresia
    Fairbanks, TJ
    Kanard, R
    Del Moral, PM
    Sala, FG
    De Langhe, S
    Warburton, D
    Anderson, KD
    Bellusci, S
    Burns, RC
    JOURNAL OF PEDIATRIC SURGERY, 2004, 39 (06) : 872 - 874
  • [44] Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus
    Pulleyn, LJ
    Reardon, W
    Wilkes, D
    Rutland, P
    Jones, BM
    Hayward, R
    Hall, CM
    Brueton, L
    Chun, N
    Lammer, E
    Malcolm, S
    Winter, RM
    EUROPEAN JOURNAL OF HUMAN GENETICS, 1996, 4 (05) : 283 - 291
  • [45] Mutation of the fibroblast growth factor receptor 2 gene in Japanese patients with Apert syndrome
    Matsumoto, K
    Urano, Y
    Kubo, Y
    Nakanishi, H
    Arase, S
    PLASTIC AND RECONSTRUCTIVE SURGERY, 1998, 101 (02) : 307 - 311
  • [46] Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1)
    Zenaty, Delphine
    Bretones, Patricia
    Lambe, Cecile
    Guemas, Isabelle
    David, Michel
    Leger, Juliane
    de Roux, Nicolas
    MOLECULAR AND CELLULAR ENDOCRINOLOGY, 2006, 254 : 78 - 83
  • [47] Phenotypic diversity in patients with craniosynostoses unrelated to Apert syndrome:: the role of fibroblast growth factor receptor gene mutations
    Ito, S
    Sekido, K
    Kanno, H
    Sato, H
    Tanaka, M
    Yamaguchi, K
    Yamamoto, I
    JOURNAL OF NEUROSURGERY, 2005, 102 (01) : 23 - 30
  • [48] Aberrant bony vasculature associated with activating fibroblast growth factor receptor mutations accompanying Crouzon syndrome - Discussion
    Fang, TD
    Nacamuli, RP
    Longaker, MT
    JOURNAL OF CRANIOFACIAL SURGERY, 2004, 15 (03) : 437 - 438
  • [49] Identification and characterization of activating mutations in the fibroblast growth factor receptor 4 in rhabdomyosarcoma
    Cheuk, Adam
    Taylor, James
    Tsang, Patricia
    Chung, Joon-Yong
    Song, Young
    Desai, Krupa
    Yu, Yanlin
    Chen, Qing-Rong
    Shah, Kushal
    Mendoza, Arnulfo
    Wei, Jun
    Khanna, Chand
    Catchpoole, Daniel
    Qualman, Stephen
    Hewitt, Stephen
    Merlino, Glenn
    Chanock, Stephen
    Khan, Javed
    CANCER RESEARCH, 2009, 69
  • [50] Fibroblast growth factor receptor (FGFR) mutations in achondroplasia and related skeletal dysplasias
    Rasar, MA
    Cho, J
    Lunstrum, GP
    Horton, WA
    GROWTH PLATE, 2002, 54 : 175 - 181
12345