The uncommon occurrence of two common inherited disorders in a single patient: a mini case series

Zuazo Francisca; Dumitrescu Alina V

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The uncommon occurrence of two common inherited disorders in a single patient: a mini case series

机译：在单身患者中罕见发生两种常见的遗传性疾病：迷你案例系列

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Background: Inherited eye disorders are genetically determined conditions that are present from birth and usually manifest early, although some may develop later in life. Despite their low incidence, they are a common etiology of pediatric blindness. The occurrence of more than one such disease in a patient is very rare.

机译：背景：遗传的眼部疾病是遗传确定的病症，这些病症出生，通常早期表现出来，尽管有些人可能会在生活中稍后发展。尽管发生了低发病率，但它们是儿科失明的常见病因。在患者身上的多种这种疾病的发生是非常罕见的。

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来源
《Ophthalmic genetics》 |2018年第5期|共6页
作者
Zuazo Francisca; Dumitrescu Alina V;
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作者单位

Univ Iowa Dept Ophthalmol &

Visual Sci Carver Coll Med Iowa City IA 52242 USA;

Univ Iowa Dept Ophthalmol &

Visual Sci Carver Coll Med Iowa City IA 52242 USA;

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原文格式 PDF
正文语种 eng
中图分类眼科学;
关键词
ABCA4; COL11A1; COL11A2; inherited eye disorders; Stargardt disease; Stickler's syndrome;

机译：ABCA4;COL11A1;COL11A2;遗传眼病;Stargardt病;Stickler的综合症;
入库时间 2022-08-20 05:21:01

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专利

1. The uncommon occurrence of two common inherited disorders in a single patient: a mini case series [J] . Zuazo Francisca, Dumitrescu Alina V Ophthalmic genetics . 2018,第5期

机译：在单身患者中罕见发生两种常见的遗传性疾病：迷你案例系列
2. Clinical outcomes and patient satisfaction following total hip and knee arthroplasty in patients with inherited bleeding disorders: A 20‐year single‐surgeon cohort [J] . Anderson J. A., Mason J. A., Halliday B. Haemophilia: the official journal of the World Federation of Hemophilia . 2018,第5期

机译：继遗产出血障碍患者总髋关节和膝关节置换术后的临床结果和患者满意度：一个20年的单外科医生队列
3. Clinical outcomes and patient satisfaction following total hip and knee arthroplasty in patients with inherited bleeding disorders: A 20‐year single‐surgeon cohort [J] . Anderson J. A., Mason J. A., Halliday B. Haemophilia: the official journal of the World Federation of Hemophilia . 2018,第Suppla4期

机译：继遗产出血障碍患者总髋关节和膝关节置换术后的临床结果和患者满意度：一个20年的单外科医生队列
4. Ion mobility coupled with TOF MS for the automated assignment of glycoconjugates in the urine of patients with inherited disorders [C] . Sergey Y. Vakhrushev, James Langridge, Chris Hughes, ASMS Conference on Mass Spectrometry and Allied Topics . 2007

机译：离子迁移率与TOF MS有关遗传性疾病患者尿液中的糖缀合物的自动分配
5. Parent of origin effects on cancer occurrences in women with an inherited BRCA1 or BRCA2 mutation. [D] . Short, Tara Mee-Stacy. 2010

机译：父母亲对具有遗传性BRCA1或BRCA2突变的女性的癌症发生率有影响。
6. Revision Knee Arthroplasty in Patients with Inherited Bleeding Disorders: A Single-Center Experience [O] . Andrzej Kotela, Magdalena Wilk-Frańczuk, Piotr Żbikowski, 2017

机译：遗传性出血性疾病患者的膝关节置换术的修订：单中心经验。
7. Aetiology and outcomes of secondary myelofibrosis occurring in the context of inherited platelet disorders: A single institutional study of four patients [O] . Antoine N. Saliba, Alejandro Ferrer, Naseema Gangat, 2020

机译：遗传血小板障碍的背景下发生的继发性髓纤维的疾病和结果：四名患者的单一制度研究

The uncommon occurrence of two common inherited disorders in a single patient: a mini case series

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