MARFAN SYNDROME--GENOTYPE/PHENOTYPE CORRELATIONS

马方综合征--基因型/表型相关性

• 批准号: 6122547
• 负责人: Philip F Giampietro
• 金额: $ 12.81万
• 依托单位: WEILL MEDICAL COLL OF CORNELL UNIV
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-12-01 至 1999-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6122547
• 关键词: Marfan syndrome; bone density; clinical research; genetic polymorphism; genotype; heart function; human subject; nutrition; nutrition related tag; phenotype; respiratory function; vision tests

The purpose of this study is to correlate phenotypic features in Marfan Syndrome (MS) with a panel of FBN-1 polymorphisms (genotype). Patients will be admitted to the CCRC for 3.5 days during which time cardiology, ophthalmology, pulmonary orthopedic, bone density an nutrition evaluations will be performed.

本研究的目的是将马凡氏综合征（MS）的表型特征与一组FBN-1多态性（基因型）相关联。 患者将入住CCRC 3.5天，在此期间将进行心脏病学、眼科、肺骨科、骨密度和营养评估。