Connexin 26 ( <ce:italic>GJB2</ce:italic>) mutation in KID syndrome: An Egyptian patient

Solaf M. Elsayed; Neveen S. Seifeldeen; Hanno Bolz

首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Connexin 26 ( GJB2) mutation in KID syndrome: An Egyptian patient

【24h】

Connexin 26 ( GJB2) mutation in KID syndrome: An Egyptian patient

机译：KID综合征中的连接蛋白26（ GJB2 ）突变：一名埃及患者

获取原文

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

摘要
著录项
相似文献
相关主题

摘要

Keratitis±ichthyosis±deafness (KID) syndrome is a rare disorder characterized by the occurrence of localized erythematous scaly skin lesions, severe bilateral keratitis, and sensorineural deafness. Other ocular manifestations include corneal epithelial defects and scarring, which cause progressive decline of visual acuity and may eventually lead to blindness. To our knowledge, few cases have been reported worldwide and none were reported from the Middle East Arab countries. Here we report the first Egyptian patient with this syndrome.

机译：角膜炎-鱼鳞病-耳聋（KID）综合征是一种罕见的疾病，其特征在于发生局部红斑性鳞状皮肤病变，严重的双侧角膜炎和感觉神经性耳聋。其他眼部表现包括角膜上皮缺损和瘢痕形成，它们会导致视力的逐渐下降，并最终导致失明。据我们所知，全世界鲜有报道，中东阿拉伯国家也没有报道。在这里，我们报告埃及首例患有这种综合征的患者。

著录项

来源
《Egyptian Journal of Medical Human Genetics》 |2011年第1期|共3页
作者
Solaf M. Elsayed; Neveen S. Seifeldeen; Hanno Bolz;
展开▼
作者单位

展开▼
收录信息
原文格式 PDF
正文语种
中图分类遗传学;
关键词

相似文献

外文文献
中文文献
专利

1. GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation. [J] . Abidi O, Boulouiz R, Nahili H, International journal of pediatric otorhinolaryngology . 2007,第8期

机译：GJB2（连接蛋白26）基因突变在常染色体隐性非综合征性听力损失和常见GJB2-35delG突变携带者频率的摩洛哥患者中出现。
2. Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation. [J] . Terrinoni A, Codispoti A, Serra V, Biochemical and Biophysical Research Communications . 2010,第4期

机译：导致KID综合征的连接蛋白26（GJB2）突变与钙门控失调导致的细胞死亡有关。
3. Connexin 26 ( GJB2 ) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report [J] . Viviana Karina Dalamón, Paula Buonfiglio, Margarita Larralde, BMC Medical Genetics . 2016,第1期

机译：阿根廷患有角膜炎-鱼鳞病-耳聋（KID）综合征的阿根廷患者中的连接蛋白26（GJB2）突变：病例报告
4. The Development of Hanwen Regular Script and Its Influence on Italic Typography [C] . Zhengying Wang International Conference on Art Studies: Science, Experience, Education . 2019

机译：汉文常规剧本的发展及其对斜体排版的影响
5. Roles of aberrant hemichannel activities due to mutant connexin26 in the pathogenesis of KID syndrome [D] . Taki T., 滝奉樹 2019

机译：突变连接蛋白26引起的异常半通道活性在KID综合征发病机制中的作用
6. Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report [O] . Viviana Karina Dalamón, Paula Buonfiglio, Margarita Larralde, 2016

机译：阿根廷患有角膜炎-鱼鳞病-耳聋（KID）综合征的阿根廷患者的连接蛋白26（GJB2）突变：病例报告
7. Connexin 26 (GJB2) mutation in KID syndrome: An Egyptian patient [O] . Elsayed Solaf M., Seifeldeen Neveen S., Bolz Hanno 2011

机译：KID综合征中的连接蛋白26（GJB2）突变：一名埃及患者

Connexin 26 ( GJB2) mutation in KID syndrome: An Egyptian patient

摘要

著录项

相似文献

相关主题

期刊订阅