A case of oculodentodigital dysplasia syndrome with novel GJA1 gene mutation

被引:0
|
作者
Momoko Himi
Takuro Fujimaki
Toshiyuki Yokoyama
Keiko Fujiki
Toshiaki Takizawa
Akira Murakami
机构
[1] Juntendo University School of Medicine,Department of Ophthalmology
[2] Takizawa Dental Clinic,Department of Ophthalmology
[3] Juntendo University School of Medicine,undefined
来源
Japanese Journal of Ophthalmology | 2009年 / 53卷
关键词
connexin 43; oculodentodigital dysplasia syndrome (ODDD);
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:541 / 545
页数:4
相关论文
共 50 条
  • [1] A case of oculodentodigital dysplasia syndrome with novel GJA1 gene mutation
    Himi, Momoko
    Fujimaki, Takuro
    Yokoyama, Toshiyuki
    Fujiki, Keiko
    Takizawa, Toshiaki
    Murakami, Akira
    JAPANESE JOURNAL OF OPHTHALMOLOGY, 2009, 53 (05) : 541 - 545
  • [2] Novel GJA1 mutation in oculodentodigital dysplasia
    Honkaniemi, J
    Kalkkila, JP
    Koivisto, P
    Kähärä, V
    Latvala, T
    Simola, K
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 139A (01) : 48 - 49
  • [3] A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia
    Vasconcellos, JPC
    Melo, MB
    Schimiti, RB
    Bressanim, NC
    Costa, FF
    Costa, VP
    ARCHIVES OF OPHTHALMOLOGY, 2005, 123 (10) : 1422 - 1426
  • [4] Japanese case of oculodentodigital dysplasia caused by a mutation in the GJA1 gene
    Hayashi, Ryota
    Bito, Toshinori
    Taniguchi-Ikeda, Mariko
    Farooq, Muhammad
    Ito, Masaaki
    Shimomura, Yutaka
    JOURNAL OF DERMATOLOGY, 2014, 41 (12): : 1109 - 1110
  • [5] A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia
    Jamsheer, A.
    Wisniewska, M.
    Szpak, A.
    Bugaj, G.
    Krawczynski, M. R.
    Budny, B.
    Wawrocka, A.
    Latos-Bielenska, A.
    JOURNAL OF APPLIED GENETICS, 2009, 50 (03) : 297 - 299
  • [6] A novel GJA1 mutation in oculodentodigital dysplasia with extensive loss of enamel
    Porntaveetus, T.
    Srichomthong, C.
    Ohazama, A.
    Suphapeetiporn, K.
    Shotelersuk, V.
    ORAL DISEASES, 2017, 23 (06) : 795 - 800
  • [7] Autosomal recessive oculodentodigital dysplasia: the third mutation identified in the GJA1 gene
    Tasdelen, E.
    Durmaz, C. D.
    Karabulut, H. G.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 990 - 991
  • [8] A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia
    Flenniken, AM
    Osborne, LR
    Anderson, N
    Ciliberti, N
    Fleming, C
    Gittens, JEI
    Gong, XQ
    Kelsey, LB
    Lounsbury, C
    Moreno, L
    Nieman, BJ
    Peterson, K
    Qu, DW
    Roscoe, W
    Shao, Q
    Tong, D
    Veitch, GIL
    Voronina, I
    Vukobradovic, I
    Wood, GA
    Zhu, YH
    Zirngibl, RA
    Aubin, JE
    Bai, DL
    Bruneau, BG
    Grynpas, M
    Henderson, JE
    Henkelman, RM
    McKerlie, C
    Sled, JG
    Stanford, WL
    Laird, DW
    Kidder, GM
    Adamson, SL
    Rossant, J
    DEVELOPMENT, 2005, 132 (19): : 4375 - 4386
  • [9] Oculodentodigital Dysplasia with Massive Brain Calcification and a New Mutation of GJA1 Gene
    Tumminelli, Gemma
    Di Donato, Ilaria
    Guida, Valentina
    Rufa, Alessandra
    De Luca, Alessandro
    Federico, Antonio
    JOURNAL OF ALZHEIMERS DISEASE, 2016, 49 (01) : 27 - 30
  • [10] Report of a black south African child with oculodentodigital dysplasia and a novel GJA1 gene mutation
    Feller, Liviu
    Wood, Neil H.
    Sluiter, Michelle D.
    Noffke, Claudia
    Raubenheimer, Erich J.
    Lemmer, Johan
    Van Rensburg, Elizabeth J.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (10) : 1350 - 1353