Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data

被引：0
|
作者：
Tsai, FJ
Tsai, CH
Chang, JG
Wu, JY
机构：
[1] China Med Coll Hosp, Dept Med Res, Taichung, Taiwan
[2] China Med Coll Hosp, Dept Pediat, Taichung, Taiwan
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1999年 / 86卷 / 03期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：300 / 301
页数：2
相关论文
共 50 条
  • [1] Hypochondroplasia, achondroplasia, and thanatophoric dysplasia caused by mutations of the fibroblast-growth-factor-receptor-3-gene (FGFR3)
    Hilbert, M
    Hilbert, K
    Spranger, J
    Wildhardt, G
    Winterpacht, A
    Wuchner, C
    Zabel, B
    MONATSSCHRIFT KINDERHEILKUNDE, 1998, 146 (07) : 687 - 691
  • [2] Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism
    Bonaventure, J
    Rousseau, F
    LegeaiMallet, L
    LeMerrer, M
    Munnich, A
    Maroteaux, P
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1996, 63 (01): : 148 - 154
  • [3] Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia
    Bonaventure, J
    Rousseau, F
    LegeaiMallet, L
    LeMerrer, M
    Munnich, A
    Maroteaux, P
    ACTA PAEDIATRICA, 1996, 85 : 33 - 38
  • [4] Mutations in the Fibroblast Growth Factor Receptor 3 gene (FGFR3) in Chilean patients with idiopathic short stature, hypochondroplasia and achondroplasia
    Mancilla, EE
    Poggi, H
    Repetto, G
    García, C
    Foradori, A
    Cattani, A
    REVISTA MEDICA DE CHILE, 2003, 131 (12) : 1405 - 1410
  • [5] Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia
    Naski, MC
    Wang, Q
    Xu, JS
    Ornitz, DM
    NATURE GENETICS, 1996, 13 (02) : 233 - 237
  • [6] Hypochondroplasia, achondroplasia, and thanatophoric dysplasia caused by mutations of the fibroblast-growth-factor-receptor-3-gene (FGFR 3) [Hypochondroplasie, achondroplasie und thanatophore dysplasie als folge von mutationen des fibroblastenwachstumsfaktor-rezeptor-3-gens (FGFR3)]
    Hilbert M.
    Hilbert K.
    Spranger J.
    Wildhardt G.
    Winterpacht A.
    Wüchner C.
    Zabel B.
    Monatsschrift Kinderheilkunde, 1998, 146 (7) : 687 - 691
  • [7] Fibroblast growth receptor-3 (FGFR3) G375C mutation in a case of achondroplasia and thanatophoric dysplasia phenotypic overlap
    Barton, Christopher
    Sweeney, Elizabeth
    Roberts, Devender
    McPartland, Jo
    CLINICAL DYSMORPHOLOGY, 2010, 19 (03) : 146 - 149
  • [8] Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia
    Heuertz, Solange
    Le Merrer, Martine
    Zabel, Bernhard
    Wright, Michael
    Legeai-Mallet, Laurence
    Cormier-Daire, Valerie
    Gibbs, Linda
    Bonaventure, Jacky
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2006, 14 (12) : 1240 - 1247
  • [9] Thanatophoric Dysplasia Caused by Double Missense FGFR3 Mutations
    Pannier, Stephanie
    Martinovic, Jelena
    Heuertz, Solange
    Delezoide, Anne-Lise
    Munnich, Arnold
    Schibler, Laurent
    Serre, Valerie
    Legeai-Mallet, Laurence
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (06) : 1296 - 1301
  • [10] Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia
    Solange Heuertz
    Martine Le Merrer
    Bernhard Zabel
    Michael Wright
    Laurence Legeai-Mallet
    Valérie Cormier-Daire
    Linda Gibbs
    Jacky Bonaventure
    European Journal of Human Genetics, 2006, 14 : 1240 - 1247
12345