Optic disc hamartomas in a family with heterozygous mutation in the VMD2 gene: Clinical, diagnostic and molecular genetic findings

被引：0
|
作者：
Todorova, M. [1 ]
Schorderet, D. F. [2 ,3 ,4 ]
Valmaggia, C. [5 ]
机构：
[1] Univ Basel, Dept Ophthalmol, Basel, Switzerland
[2] IRO, Sion, Switzerland
[3] Univ Lausanne, Dept Ophthalmol, Lausanne, Switzerland
[4] Ecole Polytech Fed Lausanne, Fac Life Sci, CH-1015 Lausanne, Switzerland
[5] Kantonspital, Dept Ophthalmol, St Gallen, Switzerland
来源：
ACTA OPHTHALMOLOGICA | 2013年 / 91卷
关键词：
D O I：
10.1111/j.1755-3768.2013.1665.x
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
1665
引用
收藏
页数：3
相关论文
共 35 条
  • [1] A novel mutation in the VMD2 gene in an Italian family with Best maculopathy
    Sodi, A.
    Passerini, I.
    Simonelli, F.
    Testa, F.
    Menchini, U.
    Torricelli, F.
    JOURNAL FRANCAIS D OPHTALMOLOGIE, 2007, 30 (06): : 616 - 620
  • [2] A novel mutation of the VMD2 gene in a chinese family with best vitelliform macular dystrophy
    Li, Yang
    Wang, Guanglu
    Dong, Bing
    Sun, Xiuying
    Turner, Matthew J.
    Kamaya, Shin
    Zhang, Kang
    ANNALS ACADEMY OF MEDICINE SINGAPORE, 2006, 35 (06) : 408 - 410
  • [3] Clinical, molecular and physiological findings in a family with a novel mutation in the Twinkle gene
    Jeppesen, Tina D.
    Dunoe, Morten
    Schwartz, Marianne
    Colding-Jorgensen, Eskild
    Vissing, John
    NEUROMUSCULAR DISORDERS, 2006, 16 : S55 - S55
  • [4] Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene
    Besch, D
    Leo-Kottler, B
    Zrenner, E
    Wissinger, B
    GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 1999, 237 (09) : 745 - 752
  • [5] Leber’s hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene
    D. Besch
    Beate Leo-Kottler
    Eberhart Zrenner
    Bernd Wissinger
    Graefe's Archive for Clinical and Experimental Ophthalmology, 1999, 237 : 745 - 752
  • [6] Clinical and Genetic Analysis of a Compound Heterozygous Mutation in the Thyroglobulin Gene in a Chinese Twin Family With Congenital Goiter and Hypothyroidism
    Liu, Shiguo
    Zhang, Shasha
    Li, Wenjie
    Zhang, Aiqing
    Qi, Fengguang
    Zheng, Guohua
    Yan, Shengli
    Ma, Xu
    TWIN RESEARCH AND HUMAN GENETICS, 2012, 15 (01) : 126 - 132
  • [7] A Japanese family with a heterozygous novel mutation in the Indian hedgehog gene exhibiting a broad spectrum of clinical features and radiological findings
    Onuki, Takanori
    Shibata, Nao
    Hiroshima, Shota
    Sawano, Kentaro
    Nagasaki, Keisuke
    CONGENITAL ANOMALIES, 2022, 62 (01) : 47 - 48
  • [8] Clinical and molecular findings in a family expressing a novel heterozygous variant of the G elongation factor mitochondrial 1 gene
    Su, Chang
    Wang, Fangfang
    EXPERIMENTAL AND THERAPEUTIC MEDICINE, 2020, 20 (06)
  • [9] Clinical presentation and molecular genetic analysis of a Sudanese family with a novel mutation in the CYP2R1 gene
    Abdalla, Asmahan T.
    Koedam, Marijke
    Drop, Sten L. S.
    Boot, Annemieke M.
    Abdullah, Muhamed A.
    van der Eerden, Bram C. J.
    GENE, 2022, 844
  • [10] Leber's hereditary optic neuropathy: Clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene
    LeoKottler, B
    ChristAdler, M
    Baumann, B
    Zrenner, E
    Wissinger, B
    GERMAN JOURNAL OF OPHTHALMOLOGY, 1996, 5 (04) : 233 - 240
1234