A novel deletion mutation, c.1296delT in the BCOR gene, is associated with oculo-facio-cardio-dental

来源 :中国科学:生命科学英文版 | 被引量 : 0次 | 上传用户：gongleiwp

【摘要】

：

The purpose of the present study was to analyze the clinical phenotypes of a girl with oculo-facio-cardio-dental(OFCD)syndrome and to identify the potential pat

【作者】

：

Jingshang Zhangi Hongyan Jia J

【机构】

：

BeijingInstituteofOphthalmology,BeijingTongrenEyeCenter,JacobsRetinaCenterShileyEyeInstitute

【出处】

：

中国科学:生命科学英文版

【发表日期】

：

2019年1期

【关键词】

：

oculo-facio-cardio-dental SYNDROME clinical PHENOTYPE BCOR DELETION MUTATION

【基金项目】

：

Beijing New Star of Science and Technology (H020821380190,Z131102000413025),Fund of Work Committee for Women and Children of China State Department (2014108),National Natural Science Foundation (30471

下载到本地 , 更方便阅读

下载此文赞助VIP

声明 : 本文档内容版权归属内容提供方 , 如果您对本文有版权争议 , 可与客服联系进行内容授权或下架

论文部分内容阅读

The purpose of the present study was to analyze the clinical phenotypes of a girl with oculo-facio-cardio-dental(OFCD)syndrome and to identify the potential pathogenic mutation responsible for her disease. The patient underwent detailed clinical examinati

其他文献

A prospective study （SCOPE） comparing the cardiometabolic and respiratory effects of air pollution e

期刊

空气污染公共健康糖尿病患者呼吸机能障碍胰岛素抵抗风险因素panel study air pollution diabetes susceptib

Overexpression of the diguanylate cyclase CdgD blocks developmental transitions and antibiotic biosy

Cyclic dimeric GMP(c-di-GMP)has emerged as the nucleotide second messenger regulating both development and antibiotic production in high-GC,Gram-positive strept

期刊

STREPTOMYCESC-DI-GMPdiguanylateCYCLASECdgDmorphologicaldifferentiationant

Mechanism underlying the retarded nuclear translocation of androgen receptor splice variants

As shown in our previous study, two alternatively spliced androgen receptor(AR) variants, which are exclusively expressed in the granulosa cells of patients wit

期刊

ANDROGENreceptorSPLICEvariantsnuclearTRANSLOCATIONheatshockprotein90IM

Gain of transcription factor binding sites is associated to changes in the expression signature of h

The gain of transcription factor binding sites(TFBS)is believed to represent one of the major causes of biological innovation.Here we used strategies based on c

期刊

TFBSTRANSCRIPTfactorhumanevolutionEXPRESSIONBREADTH

Theranostical application of nanomedicine for treating central nervous system disorders

期刊

神经系统中央研究人员多功能代理人CNS治疗学大脑nanomedicine theranostical efficacy drug deliv

Macular retinal thickness and flow density change by optical coherence tomography angiography after

Optical coherence tomography angiography(Angio-OCT) has introduced a new non-invasive,quantitative method to assess superficial and deep capillary networks of t

期刊

MACULARRETINALthicknessMACULARflowdensityopticalCOHERENCEtomographyANGI

A comparative study of distant hybridization in plants and animals

期刊

动物植物杂交生物特征基因变化新种类混血儿生长特点animals and plants distant hybridization repro

Current perspectives on in vitro maturation and its effects on oocyte genetic and epigenetic profile

期刊

卵母细胞成熟MEDLINE基因IVMVIVO生长因素文化in vitro maturation oocyte fertility genetic

The regulation effect of AMPK in immune related diseases

期刊

AMPK相关疾病免疫力动脉粥样硬化新陈代谢巨噬细胞淋巴细胞蛋白质AMPK metabolic changes immune cells athe

A transient expression system in soybean mesophyll protoplasts reveals the formation of cytoplasmic

Soybean(Glycine max(L.) Merr.), grown for its plant oils and proteins, is one of the most important crops throughout the world.Generating stable and heritable t

期刊

SOYBEANPROTOPLASTTRANSFECTIONSUBCELLULARlocalizationCRYPTOCHROMEphotobodie

A novel deletion mutation, c.1296delT in the BCOR gene, is associated with oculo-facio-cardio-dental

与本文相关的学术论文