Novel FGFR2 Deletion in a Patient With Beare-Stevenson-Like Syndrome

被引：17
|
作者：
Slavotinek, Anne [1 ]
Crawford, Howard [2 ]
Golabi, Mahin [1 ]
Tao, Cathy [3 ]
Perry, Hazel [3 ]
Oberoi, Sneha [3 ]
Vargervik, Karin [3 ]
Friez, Michael [2 ]
机构：
[1] Univ Calif San Francisco, Dept Pediat, San Francisco, CA 94143 USA
[2] Greenwood Genet Ctr, Greenwood, SC 29646 USA
[3] UCSF, Sch Dent, Dept Orofacial Sci, Div Craniofacial Anomalies, San Francisco, CA USA
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2009年 / 149A卷 / 08期
关键词：
CUTIS-GYRATA-SYNDROME; MUTATION; GENE; TYR375CYS;
D O I：
10.1002/ajmg.a.32947
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：1814 / 1817
页数：4
相关论文
共 50 条
  • [31] Pfeiffer syndrome is not caused by haploinsufficient mutations of FGFR2
    Johnson, D
    Wilkie, AOM
    JOURNAL OF CRANIOFACIAL GENETICS AND DEVELOPMENTAL BIOLOGY, 2000, 20 (02): : 109 - 111
  • [32] PHENOTYPIC FEATURES AND FGFR2 MUTATIONS IN APERT SYNDROME
    THEDA, C
    PARK, WJ
    MAESTRI, NE
    MEYERS, GA
    FRYBURG, JS
    DUFRESNE, C
    COHEN, MM
    JABS, EW
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 96 - 96
  • [33] Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain
    McGillivray, G
    Savarirayan, R
    Cox, TC
    Stojkoski, C
    McNeil, R
    Bankier, A
    Bateman, JF
    Roscioli, T
    Gardner, RJM
    Lamandé, SR
    JOURNAL OF MEDICAL GENETICS, 2005, 42 (08) : 656 - 662
  • [34] Cervical Mesonephric Adenocarcinoma With Novel FGFR2 Mutation
    Skala, Stephanie L.
    Gregg, Patricia A.
    Orr, James W., Jr.
    Udager, Aaron M.
    Brown, Noah A.
    Cho, Kathleen R.
    INTERNATIONAL JOURNAL OF GYNECOLOGICAL PATHOLOGY, 2020, 39 (05) : 452 - 455
  • [35] Alofanib, a novel allosteric FGFR2 inhibitor, shows potent antitumor activity in ovarian cancer with FGFR2 expression
    Tjulandin, Sergei
    Byakhov, Mikhail
    Stepanova, Evgenia
    Khochenkov, Dmitry
    Harrison, Daniel
    Tsimafeyeu, Ilya
    CANCER RESEARCH, 2015, 75
  • [36] Novel FGFR2 biparatopic antibodies for the treatment of cholangiocarcinoma
    Chaturantabut, Saireudee
    Oliver, Sydney
    Kim, John
    Frederick, Dennie
    Robinson, Foxy
    Sinopoli, Alessandro
    Rodriguez, Diego J.
    Chang, Liang
    Bardeesy, Nabeel
    Sellers, William
    CANCER RESEARCH, 2023, 83 (07)
  • [37] Beare-Stevenson Syndrome: Two New Patients, Including a Novel Finding of Tracheal Cartilaginous Sleeve
    Wenger, Tara L.
    Bhoj, Elizabeth J.
    Wetmore, Ralph F.
    Mennuti, Michael T.
    Bartlett, Scott P.
    Mollen, Thomas J.
    McDonald-McGinn, Donna M.
    Zackai, Elaine H.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (04) : 852 - 857
  • [38] S267P Mutation in FGFR2: First Report in a Patient With Crouzon Syndrome
    Ke, Ronghu
    Yang, Xianxian
    Ge, Min
    Cai, Tianyi
    Lei, Jiaqi
    Mu, Xiongzheng
    JOURNAL OF CRANIOFACIAL SURGERY, 2015, 26 (02) : 592 - 594
  • [39] Detection of G338R FGFR2 mutation in a Vietnamese patient with Crouzon syndrome
    Anh Lan Thi Luong
    Thoung Thi Ho
    Hoang, Ha
    Trung Quang Nguven
    Tu Cam Ho
    Phan Duc Tran
    Thuy Thi Hoang
    Nam Trung Nguyen
    Hoang Ha Chu
    BIOMEDICAL REPORTS, 2019, 10 (02) : 107 - 112
  • [40] High Incidence of Vesicoureteral Reflux in Mice With Fgfr2 Deletion in Kidney Mesenchyma
    Hains, David S.
    Sims-Lucas, Sunder
    Carpenter, Ashley
    Saha, Monalee
    Murawski, Inga
    Kish, Kayle
    Gupta, Indra
    McHugh, Kirk
    Bates, Carlton M.
    JOURNAL OF UROLOGY, 2010, 183 (05): : 2077 - 2084
12345