Myopia-26 the female-limited form of early-onset high myopia occurring in a European family

机译：Myopia-26早盘性高近视的女性有限的形式发生在欧洲家庭中

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摘要

The pedigree of the investigated family. Dark shading indicates an eoHM phenotype. Dashed circles mark patients whose blood samples were obtained, the two arrows mark the two samples that went through whole exome sequencing

机译：调查家庭的血统。暗阴影表示Eohm表型。虚线圆圈标记血液样本的患者，两个箭头标志着经过整个外壳测序的两个样品

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期刊名称 Orphanet Journal of Rare Diseases
作者
Noémi Széll; Tamás Fehér; Zoltán Maróti; Tibor Kalmár; Dóra Latinovics; István Nagy; Zsuzsanna Z. Orosz; Márta Janáky; Andrea Facskó; Zoltán Sohajda;
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年(卷),期 2021(-1),-1
年度 2021
页码 -1
总页数 13
原文格式 PDF
正文语种
中图分类医学史;
关键词
Early onset high myopia; X-linked female-limited high myopia; Intrinsically photosensitive retinal ganglion cell; Monogenic disorder; Mendelian inheritance; X-arrestin; ARR3; G-protein coupled receptor;

机译：早期发病高近视;X-Linked女性有限的高近视;内在的光敏视网膜神经节细胞;单一的疾病;孟德利亚遗传;X-ARRESTIN;ARR3;G-蛋白偶联受体;

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专利

1. Novel TRPM1 mutations in two Chinese families with early-onset high myopia, with or without complete congenital stationary night blindness [J] . Lin Zhou1, Tuo Li1, Yi-Qiao Xing2, 国际眼科杂志：英文版 . 2016,第010期

机译：在两个患有早发性高度近视的中国家庭中，无论是否患有完全性先天性固定性夜盲，新型TRPM1突变
2. Detection of Mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 Families With Early-Onset High Myopia by Exome Sequencing [J] . Dan Jiang, Jiali Li, Xueshan Xiao, Investigative ophthalmology & visual science . 2015,第1期

机译：外显子组测序检测298例早发性高度近视家庭LRPAP1，CTSH，LEPREL1，ZNF644，SLC39A5和SCO2的突变
3. X-linked heterozygous mutations in ARR3 cause female-limited early onset high myopia [J] . Guo Xiangming, Jia Xiaoyun, Li Shiqiang, Molecular vision . 2016,第2016期

机译：X连锁的ARR3杂合突变导致女性有限的早发型高度近视
4. Family Affection to Children Visualized on the Co-occurring of Questionnaire Answers [C] . Yumiko NARA, Yukio OHSAWA World Multiconference on Systemics, Cybernetics and Informatics(SCI 2001) v.8: Human Information and Education Systems; 20010722-20010725; Orlando,FL; US . 2001

机译：从问卷答案的同时出现可以看出对孩子的家庭情感
5. Genome copy number profiles of African-American and European-American early-onset breast cancer. [D] . Farmer, Tyesha Latrece. 2009

机译：非裔美国人和欧美人早发乳腺癌的基因组拷贝数概况。
6. Chromosome 6-linked autosomal recessive early-onset Parkinsonism: linkage in European and Algerian families extension of the clinical spectrum and evidence of a small homozygous deletion in one family. The French Parkinsons Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinsons Disease. [O] . J Tassin, A Dürr, T de Broucker, 1998

机译：染色体6连锁常染色体隐性遗传性早发性帕金森病：欧洲和阿尔及利亚家庭的连锁关系临床范围的扩展以及一个家庭中纯合子缺失的证据。法国帕金森氏病遗传学研究小组和欧洲帕金森氏病遗传易感性联盟。
7. Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family [O] . Noémi Széll, Tamas Feher, Zoltán Maróti, 2021

机译：Myopia-26，早盘性高近视的女性有限的形式，发生在欧洲家庭中

Myopia-26 the female-limited form of early-onset high myopia occurring in a European family

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