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- Conclusion:EXT is an autosomal dominant disorder and the penetrance is 97%in this report. 结论:证实EXT为常染色体显性遗传病,本组外显率为97%25。
- Background: Steatocystoma Multiplex (SM) (sebocystomatosis) is an autosomal dominant disorder characterized by multiplex dermal cysts . 背景:多发性脂囊瘤( steatocystoma multiplex ,SM) 亦称多发性皮脂囊肿,是一种以多发性皮肤囊肿为特点的常染色体显性遗传病。
- Abstract:BACKGROUND AND STUDY AIMS: Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder characterized by telangiectasia formation that can lead to small-bowel bleeding. 摘要背景与研究目的:遗传性出血性毛细血管扩张症(HHT)为罕见的常染色体显性疾病,其特征为小肠毛细血管扩张、出血。
- Neurofibromatosis type 1 is a common autosomal dominant disorder with a high rate of penetrance.It is caused by the mutation of the tumor suppressor gene NF1, which encodes neurofibromin. I型神经纤维瘤是一种常见的高外显率的常染色体显性遗传病,编码神经纤维蛋白的抑癌基因NF1的突变能导致I型神经纤维瘤。
- This disorder is inherited as an autosomal dominant trait. 本病作为常染色体显性传递。
- autosomal dominant disorder 常染色体显性疾病
Neurofibromatosis type 1 is a common autosomal dominant disorder with a high rate of penetrance.It is caused by the mutation of the tumor suppressor gene NF1, which encodes neurofibromin.
I型神经纤维瘤是一种常见的高外显率的常染色体显性遗传病,编码神经纤维蛋白的抑癌基因NF1的突变能导致I型神经纤维瘤。- Dentin dysplasia is a genetic disorder of teeth, commonly exhibiting an autosomal dominant inheritance. 什麽是'牙本质发育异常-牙本质发育异常'?
- Nevoid basal cell carcinoma syndrome is a rare autosomal dominant genetic disorder characterized by developmental abnormalities and tumorigenesis. 痣样基底细胞癌综合征是一种罕见的常染色体显性遗传病,以发育异常和肿瘤发生为主要临床特征。
- Epidermolytic palmoplantar keratoderma, a rare autosomal dominant hereditary disease, is a keratinization disorder of palms and soles caused by mutation in the keratin 9 gene. 掌蹠表皮松解性角化症是一罕见体显性遗传疾病,主要是因为九号角质素基因发生突变而引起掌蹠角化异常。
- Autosomal dominant congenital cataract (ADCC) is a clinically and genetically heterogeneous lens disorder that is usually considered to be a sight-threatening trait in childhood. 先天性白内障是儿童常见的致盲眼病,由于晶状体混浊的部位形态和程度不同,常又合并其他眼病和异常,所以视力障碍的程度不同。
- Tuberous sclerosis (TSC) is a common autosomal dominant disease. 结节性硬化症是一种临床较常见的显性遗传病。
- Congenital microphthalmia is a developmental defect of ocular disorder with autosomal dominant, autosomal recessive, and X-linked recessive modes of inheritance. 先天性小眼球是一种先天发育异常性眼科疾病,遗传方式有常染色体显性遗传、常染色体隐性遗传和X连锁隐性遗传。
- HHT is an autosomal dominant disordercharacterized by vascular dysplasia. HHT是常染色体显性遗传性血管发育异常的一种疾病。
- It is obviously autosomal dominant inheritance according to the pedigree. 由于第一代病例仅为右眼虹膜缺损,故较支持中胚层迷走发育的理论。
- The Alzheimer in this ancestry appears as autosomal dominant genetic disease. 阿尔茨海默病在本家系中显示为常染色体显性遗传。
- BackgroundHereditary spastic paraplegia (HSP or SPG) is a kind of hereditary disorder of nervous system. Autosomal dominant (AD), autosomal recessive (AR), X-linked inheritance have been described for HSP. 遗传性痉挛性截瘫(hereditary spastic paraplegia,HSP或SPG)是一种神经系统遗传病,呈常染色体显性遗传(autosomal dominant,AD)、常染色体隐性遗传(autosomal recessive,AR)和X-连锁隐性遗传(X-linked recessive,XR),其中以AD遗传最为常见。
- Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset disorder characterized by progressive cyst development and bilaterally enlarged kidneys with multiple cysts. 什么是'常染色体显性多囊肾病-遗传性疾病导致流体填补蛀牙肾脏'?
- With pedigree analysis, the genetic mode of the disease in the family are autosomal dominant inheritance. 据系谱分析,该疾病符合常染色体显性遗传方式。
- A Six-generation Family with Autosomal Dominant Deafness Passed Along: Possibly A New Locus? 六代相传显性遗传耳聋大家系:一个可能的新基因座?