Conradi-Hunermann syndrome with ocular anomalies.

Tanaka Y; Saitoh A; Taniguchi H; Oba K; Kitaoka T; Amemiya T

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Conradi-Hunermann syndrome with ocular anomalies.

机译：伴有眼部异常的Conradi-Hunermann综合征。

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We report a Japanese girl with the Conradi-Hunermann form of chondrodysplasia punctata and anterior segment malformations characteristic of Axenfeld-Rieger syndrome. The patient also had cataracts and unilateral optic atrophy. A possible role for homeobox-containing genes in the etiology of this type of chondrodysplasia punctata is suggested as an explanation for the coincidence of these two syndromes.

机译：我们报道了一名日本女孩，患有点状软骨发育不良和Axenfeld-Rieger综合征的前节畸形的Conradi-Hunermann形式。该患者还患有白内障和单侧视神经萎缩。建议将含同源异型盒的基因在这种类型的软骨发育不良的病因中的可能作用解释为这两种综合症的同时发生。

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来源
《Ophthalmic genetics》 |1999年第4期|共4页
作者
Tanaka Y; Saitoh A; Taniguchi H; Oba K; Kitaoka T; Amemiya T;
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正文语种 eng
中图分类眼科学;
关键词
Anterior Eye Segment; Chondrodysplasia Punctata; Eye Diseases; 眼前半段; 软骨发育异常; 点状; 眼疾病;

机译：Anterior Eye Segment;Chondrodysplasia Punctata;Eye Diseases;眼前半段;软骨发育异常;点状;眼疾病;

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专利

1. Conradi-Hunermann syndrome with ocular anomalies. [J] . Tanaka Y, Saitoh A, Taniguchi H, Ophthalmic genetics . 1999,第4期

机译：伴有眼部异常的Conradi-Hunermann综合征。
2. Non-lethal non-mosaic male with conradi-hunermann syndrome caused by a novel EBP c.356T>G mutation [J] . BodeH., GalmC., HummlerH., American journal of medical genetics, Part A . 2013,第9期

机译：由新的EBP c.356T> G突变引起的非致命性非马赛克性男性患有conradi-hunermann综合征
3. The nature of cartilage stippling in chondrodysplasia punctata: histopathological study of Conradi-Hunermann syndrome. [J] . Pazzaglia UE, Zarattini G, Donzelli C, Fetal and pediatric pathology . 2008,第2期

机译：点状软骨发育不良的软骨斑点性质：Conradi-Hunermann综合征的组织病理学研究。
4. BIOMISA Retinal Image Database for Macular and Ocular Syndromes [C] . Taimur Hassan, M. Usman Akram, M. Furqan Masood, International conference on image analysis and recognition . 2018

机译：BIOMISA黄斑和眼综合征的视网膜图像数据库
5. A Descriptive Case Study of Individuals with Presumed Ocular Histoplasmosis Syndrome Utilizing a Facebook Support Group. [D] . Thompson, Lisa A. 2015

机译：利用Facebook支持小组对假定的眼组织胞浆菌病综合征患者进行描述性案例研究。
6. Screening of pre-school children for ocular anomalies. II. Amblyopia. Prevalence and therapeutic results at different ages. [O] . M Oliver, I Nawratzki 1971

机译：对学龄前儿童进行眼部异常检查。二。弱视。不同年龄段的患病率和治疗效果。
7. A case of spherocytosis with complete deficiency of erythrocyte membrane protein band 4.2, accompanied with arachnoid cyst and congenital ocular anomalies. [O] . Hiroyuki ITO, Kenji IZUHARA, Eisuke YOKOTA, 1989

机译：一种具有完全缺乏红细胞膜蛋白带4.2的球形细胞症的情况，伴有蛛网膜囊肿和先天性眼部异常。

Conradi-Hunermann syndrome with ocular anomalies.

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