A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family.

导出 LinkOut

翻译打印收藏纠错

作者： Kathryn P,Burdon ^[1] ; Shane R,Durkin ; Mary,Burke ; Matthew,Edwards ; John,Pater ; Tania,Straga ; Jozef,Gecz ; Jan E,Liebelt ; Jamie E,Craig

作者单位： Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia. kathryn.burdon@flinders.edu.au ^[1]

主题词白内障(Cataract);儿童, 学龄前(Child, Preschool);染色体, 人, X(Chromosomes, Human, X);颅面骨畸形(Craniofacial Abnormalities);发育障碍(Developmental Disabilities);外胚层发育不良症(Ectodermal Dysplasia);女(雌)性(Female);基因连锁(Genetic Linkage);人类(Humans);男(雄)性(Male);系谱(Pedigree);表型(Phenotype);南澳大利亚(South Australia);综合征(Syndrome);青年人(Young Adult)

DOI 10.1002/ajmg.a.32726

PMID 19291767

发布时间 2024-11-27

翻译满意度评价：

准确一般字义偏差语意偏离译文作用小提交

浏览152

American journal of medical genetics. Part A

2009年149A卷4期

633-9页

相似文献

中文期刊
外文期刊
学位论文
会议论文

检索历史清除

A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family.

American journal of medical genetics. Part A

相似文献

American journal of medical genetics. Part A

相关期刊

参考文献：
指定格式：	NoteExpress EndNote RefWorks NoteFirst

检索历史 清除

A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family.

American journal of medical genetics. Part A

相似文献

American journal of medical genetics. Part A

相关期刊

检索历史清除