X-LINKED JUVENILE RETINOSCHISIS IN A CONSANGUINEOUS FAMILY Phenotypic Variability and Report of a Homozygous Female Patient

Gliem Martin; Holz Frank G.; Stoehr Heidi; Weber Bernhard H. F.; Issa Peter Charbel

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X-LINKED JUVENILE RETINOSCHISIS IN A CONSANGUINEOUS FAMILY Phenotypic Variability and Report of a Homozygous Female Patient

机译：X连锁的少年家庭表型变异和纯合女性患者的报告。

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摘要

Purpose: To describe the phenotypic variability in a consanguineous family with genetically confirmed X-linked retinoschisis.

机译：目的：描述具有遗传学确证的X连锁视网膜分裂症的近亲家庭的表型变异性。

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来源
《Retina》 |2014年第12期|共7页
作者
Gliem Martin; Holz Frank G.; Stoehr Heidi; Weber Bernhard H. F.; Issa Peter Charbel;
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正文语种 eng
中图分类眼科学;
关键词
X-linked retinoschisis; fundus autofluorescence; optical coherence tomography; macular pigment; consanguinity; homozygosity;

机译：X-连锁视网膜分裂症;眼底自发荧光;光学相干断层扫描;黄斑色素;血缘性;纯合性;

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专利

1. X-LINKED JUVENILE RETINOSCHISIS IN A CONSANGUINEOUS FAMILY Phenotypic Variability and Report of a Homozygous Female Patient [J] . Gliem Martin, Holz Frank G., Stoehr Heidi, Retina . 2014,第12期

机译：X连锁的少年家庭表型变异和纯合女性患者的报告。
2. X-Linked Retinoschisis: Phenotypic Variability in a Chinese Family [J] . Yangyan Xiao, Xiao Liu, Luosheng Tang, Scientific reports. . 2016,第期

机译：X-Linked Retinoschisis：中国家庭的表型变异
3. A Colombian family with X-linked juvenile retinoschisis with three affected females finding of a frameshift mutation. [J] . Mendoza Londono-R, Hiriyanna KT, Bingham EL, Ophthalmic genetics . 1999,第1期

机译：一个与X连锁的青少年视网膜分裂症相关的哥伦比亚家庭，三名受影响的女性发现了移码突变。
4. ON-RESPONSE DEFICITS IN X-LINKED JUVENILE RETINOSCHISIS ASSESSED BY SAWTOOTH FLICKER ELECTRORETINOGRAM [C] . KENNETH R. ALEXANDER, GERALD A. FISHMAN, CLAIRE S. BARNES, Topical Meeting on Vision Science and its Applications, Feb 11-14, 2000, Santa Fe, New Mexico . 2000

机译：SAWTOOTH FLICKER视网膜电图评估X线性青少年视网膜劈裂的反应不足
5. Effects of Therapeutic Exercise on Functional Performance, Self-Reported Outcomes and Physical Activity in Female Patients with Knee Osteoarthritis. [D] . Stempky, Bradley M. 2015

机译：治疗性运动对女性膝骨关节炎患者功能性能，自我报告的结果和身体活动的影响。
6. X-Linked Retinoschisis in Females in a Consanguineous Family: A Rare Entity [O] . Mehmet Önen, Kürşat Zor, Erkut Küçük, 2020

机译：在近亲家庭中女性的X链状视网膜：一个罕见的实体
7. Erratum: Corrigendum: X-Linked Retinoschisis: Phenotypic Variability in a Chinese Family [O] . Yangyan Xiao, Xiao Liu, Luosheng Tang, 2016

机译：错误：勘误：X-Linked Retinoschisis：中国家庭中的表型变异性

X-LINKED JUVENILE RETINOSCHISIS IN A CONSANGUINEOUS FAMILY Phenotypic Variability and Report of a Homozygous Female Patient

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