Improved diagnosis of a common mutation (R248C) in the human growth factor receptor 3 (FGFR3) gene that causes type I Thanatophoric dysplasia

被引：6
|
作者：
Simsek, M [1 ]
Al-Gazali, L
Al-Mjeni, R
Bayoumi, R
机构：
[1] Sultan Qaboos Univ, Coll Med, Dept Biochem, Muscat, Oman
[2] Sultan Qaboos Univ, Genet Unit, Coll Med, Muscat, Oman
[3] United Arab Emirates Univ, Fac Med & Hlth Sci, Dept Paediat, Al Ain, U Arab Emirates
来源：
CLINICAL BIOCHEMISTRY | 2003年 / 36卷 / 02期
关键词：
D O I：
10.1016/S0009-9120(02)00441-1
中图分类号：
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号：
1001 ;
摘要：
引用
收藏
页码：151 / 153
页数：3
相关论文
共 50 条
  • [1] Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia
    Hyland, VJ
    Robertson, SP
    Flanagan, S
    Savarirayan, R
    Roscioli, T
    Masel, J
    Hayes, M
    Glass, IA
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 120A (02) : 157 - 168
  • [2] An unusual radiological finding in thanatophoric dysplasia type 1 with common mutation of the fibroblast growth factor receptor-3 (FGFR3) gene (Arg248Cys)
    Camera, G
    Baldi, M
    Baffico, M
    Pozzolo, S
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1997, 71 (01): : 122 - 123
  • [3] A THANATOPHORIC DYSPLASIA TYPE I CASE WITH A FGFR3 P.R248C MUTATION AND SURVIVAL BEYOND THE NEONATAL PERIOD
    Sahin, S.
    Ograg, H.
    Aslan, E. Atas
    Akcan, A. B.
    Turkmen, M. Kaynak
    Moosa, S.
    Elcioglu, N. H.
    GENETIC COUNSELING, 2016, 27 (04): : 513 - 517
  • [4] Second-trimester molecular diagnosis of a heterozygous 742C → T (R248C) mutation in the FGFR3 gene in a thanatophoric dysplasia variant following suspicious ultrasound findings
    Chen, CP
    Chern, SR
    Wang, W
    Wang, TY
    ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2001, 17 (03) : 272 - 273
  • [5] The R248C FGFR3 hotspot mutation affects cell growth, apoptosis and attachment of human HaCaT keratinocytes
    Hafner, C.
    Di Martino, E.
    Hartmann, A.
    Landthaler, M.
    Knowles, M.
    Vogt, T.
    EXPERIMENTAL DERMATOLOGY, 2010, 19 (02) : 211 - 211
  • [6] Identification of a Novel Insertion Mutation in FGFR3 That Causes Thanatophoric Dysplasia Type 1
    Lindy, Amanda S.
    Basehore, Monica J.
    Munisha, Mumingjiang
    Williams, Aimee Leanne
    Friez, Michael J.
    Writzl, Karin
    Willems, Patrick
    Dougan, Scott T.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2016, 170 (06) : 1573 - 1579
  • [7] Atypical Achondroplasia Due To Somatic Mosaicism for the Common Thanatophoric Dysplasia Mutation R248C
    Takagi, Masaki
    Kaneko-Schmitt, Saori
    Suzumori, Nobuhiro
    Nishimura, Gen
    Hasegawa, Tomonobu
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (01) : 247 - 250
  • [8] R248C FGFR3 mutation. Effect on cell growth, apoptosis and attachment in HaCaT keratinocytes
    Hafner, C.
    Hartmann, A.
    PATHOLOGE, 2010, 31 : 221 - 224
  • [9] 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
  • [10] Mutational analysis of FGFR3 in thanatophoric dysplasia, type I.
    Bellus, GA
    Baker, A
    Spector, EB
    Hunter, AGW
    Hecht, J
    Lewanda, AF
    Szabo, J
    Francomano, CA
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A326 - A326
12345