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- Objective To analyze the clinical manifestations of congenital fibrosis of the extraocular muscles(CFEOM) both in their pedigrees and sporadic cases. 目的探讨先天性眼外肌纤维化综合征(CFEOM)患病家系及散发病例的临床表现和诊断方法。
- The pedigree may be precious resource candidate for discovering disease gene responsible for congenital fibrosis of the extraocular muscle. 该家系可作为寻找眼外肌纤维化疾病相关基因的宝贵资源。
- Congenital fibrosis of extraocular muscle (CFEOM) is a rare autosomal hereditary disorder.The clinical phenotypes are varied. 先天性广泛性眼外肌纤维化(CFEOM)是一种罕见的常染色体遗传病,其临床表现各异,遗传方式不一,至今病因尚不完全清楚。
- The pedigree may be precious resource candidate for discovering disease gene related with congenital fibrosis of the extraocular muscle. 该家系可作为寻找眼外肌纤维化疾病相关基因的宝贵资源。
- Congenital fibrosis syndrome is a rare familial hereditary disease, characterized by fibrotic change of extraocular muscles. 摘要先天性纤维化症候群是一少见的家族性遗传疾病。
- congenital fibrosis of extraocular muscle(CFEOM) 先天性广泛性眼外肌纤维化(CFEOM)
- congenital fibrosis of the extraocular muscles 眼外肌纤维化
- A Family History of Congenital Fibrosis of the Extraocular Muscle with Autosomal Dominant Inheritance 一个常染色体显性遗传先天性眼外肌纤维化家系
- Clinical investigation of the syndrome of congenital fibrosis of extraocular muscles 先天性眼外肌纤维化综合征的临床分析
- Clinical phenotype and linkage analysis in a Chinese family with congenital fibrosis of extraocular muscle 先天性广泛眼外肌纤维化综合征一家系临床表型及基因连锁定位分析
- Keywords congenital fibrosis of extraocular muscle;autosomal dominant;linkage analysis; 先天性广泛眼外肌纤维化综合征;显性遗传;连锁分析;
- Keywords Congenital fibrosis of extraocular muscles;Autosome dominant;Linkage analysis;KIF21A gene; 先天性广泛眼外肌纤维化综合征;显性遗传;连锁分析;Kif21A基因;
- Anovel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and marcus gunn jawwinking phenomenon 在1例先天性眼外肌纤维化伴Marcus-gunn现象患者发现一种新型KIF21A突变
- Hypoplastic oculomotor nerve and absent abducens nerve in congenital fibrosis syndrome and synergistic divergence with magnetic resonance imaging 磁共振成像技术研究先天性纤维化综合征和协同肌分离患者的先天动眼神经发育不全及外展神经缺失
- Keywords congenital fibrosis of the extraocular muscles;autosomal dominant inheritance;linkage analysis;gene sequence analysis;KIF21A;juvenile canities; 先天性眼外肌纤维化;常染色体显性遗传;连锁分析;基因序列分析;KIF21A基因;少年白发;
- He has congenital heart disease. 他有先天性心脏病。
- Cystic fibrosis is a hereditary disease. 囊性纤维性病是一种遗传性疾病。
- Can Curcumin Cure Cystic Fibrosis? 姜黄素能否治疗囊性纤维化?
- Congenital stenosis of the esophagus is not common. 先天性食管狭窄并不常见。
- Here is a congenital bicuspid aortic valve. 这是一个先天性的两瓣叶主动脉瓣。