A New TGFBI-Corneal Dystrophy ? Combination with Adult-Onset-Vitelliform Macular Dystrophy

Van Dooren Bart; Sloot Frea; Klaver Caroline C. W.; Thiadens Alberta A. H. J.

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A New TGFBI-Corneal Dystrophy ? Combination with Adult-Onset-Vitelliform Macular Dystrophy

机译：一种新的TGFBI - 角膜营养不良？与成人缺点 - 玻璃体黄斑营养不良组合

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来源
《Investigative ophthalmology & visual science 》 |2018年第9期| 共2页
作者
Van Dooren Bart; Sloot Frea; Klaver Caroline C. W.; Thiadens Alberta A. H. J.;
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作者单位

Erasmus MC Ophthalmol Breda Netherlands;

Erasmus MC Ophthalmol Breda Netherlands;

Erasmus MC Epidemiol Rotterdam Netherlands;

Erasmus MC Ophthalmol Breda Netherlands;

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正文语种 eng
中图分类眼科学 ;
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专利

1. A New TGFBI-Corneal Dystrophy ? Combination with Adult-Onset-Vitelliform Macular Dystrophy [J] . Van Dooren Bart, Sloot Frea, Klaver Caroline C. W., Investigative ophthalmology & visual science . 2018 ,第9期

机译：一种新的TGFBI - 角膜营养不良？与成人缺点 - 玻璃体黄斑营养不良组合
2. Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration. [J] . Kramer F, White K, Pauleikhoff D, European journal of human genetics: EJHG . 2000 ,第4期

机译：VMD2基因的突变与青少年发作的玻璃状黄斑营养不良（最佳疾病）和成年的玻璃状黄斑营养不良有关，但与年龄相关的黄斑变性无关。
3. Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients. [J] . Kinnick TR, Mullins RF, Dev S, Retina . 2011 ,第3期

机译：一大批玻璃体黄斑营养不良患者的常染色体隐性玻璃体黄斑营养不良。
4. . Electrophysiological and neurophysiological symptoms of age-related macular dystrophy [C] . A.M. SHAMSHINOVA, V.S. LTSENKO, J.A. AREFIEVA, European Macula Group . 1998

机译：。年龄相关黄斑营养不良的电生理和神经生理学症状
5. The effect of docosahexaenoic acid (DHA) supplementation on the macular function in patients with best vitelliform macular dystrophy [D] . Lee, Thomas Kin Man. 2005

机译：二十二碳六烯酸（DHA）补充对最佳玻璃体样黄斑营养不良患者黄斑功能的影响
6. Hypotrichosis with juvenile macular dystrophy: Combination of whole‐genome sequencing and genome‐wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole‐exome sequencing—A lesson from next‐generation sequencing [O] . Amir Hossein Saeidian, Hassan Vahidnezhad, Leila Youssefian, 2019

机译：幼年性黄斑营养不良的hyperrichosis：全基因组测序和全基因组纯合性作图的结合可识别出最初在全基因组测序中未发现的CDH3的大量缺失这是下一代测序的一个教训
7. Hypotrichosis with juvenile macular dystrophy: Combination of whole‐genome sequencing and genome‐wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole‐exome sequencing—A lesson from next‐generation sequencing [O] . Amir Hossein Saeidian, Hassan Vahidnezhad, Leila Youssefian, 2019

机译：具有幼年黄斑营养不良的鼠标四种：全基因组测序和基因组型纯合性映射的组合鉴定了CDH3中的大缺失，最初未被全面测序 - 来自下一代测序的课程

A New TGFBI-Corneal Dystrophy ? Combination with Adult-Onset-Vitelliform Macular Dystrophy

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