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Clinical and Molecular Characterization of Proteus Syndrome

Clinical and Molecular Characterization of Proteus Syndrome
变形杆菌综合征的临床和分子特征
批准号：
6227984
负责人：
LESLIE G BIESECKER
金额：
$0.0万
依托单位：
NATIONAL HUMAN GENOME RESEARCH INSTITUTE
依托单位国家：
美国
项目类别：
财政年份：
--
资助国家：
美国
项目状态：
未结题
起止时间：
至
来源：
https://reporter.nih.gov/project-details/6227984
关键词：
clinical research complementary DNA genetic disorder human genetic material tag human subject mental retardation molecular cloning molecular pathology neoplasm /cancer pathologic process pediatrics skeletal disorder syndrome

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中文摘要
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英文摘要
This study seeks to delineate the clinical and molecular features of Proteus syndrome. Proteus syndrome is a sporadic disorder that includes soft and bony tissue overgrowth, mental retardation, and tumor predisposition. It is extremely rare and difficult to diagnose. We will gather affected subjects and evaluate in detail from a clinical perspective to understand the range of manifestations of the disorder and the natural history. In addition, we will use new molecular tools of subtractive cloning techniques, cDNA arrays, differential display, etc. to begin to understand the gene pathway that is perturbed in this disorder. - Mental retardation, Pediatric research, cancer research, dental/oral disease, brain disorders, clinical research, diagnostic radiology - Human Subjects
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