巴德-比德尔综合征概述
Bardet-Biedl Syndrome Overview
作者信息
Forsyth RaeLynn, Gunay-Aygun Meral
机构信息
Departments of Pediatrics and Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland
Professor of Pediatrics and Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland
PMID:20301537
Abstract
The purpose of this overview is to: 1.. Describe the clinical characteristics of Bardet-Biedl syndrome; 2.. Review the genetic causes of Bardet-Biedl syndrome; 3.. Provide an evaluation strategy to identify the genetic cause of Bardet-Biedl syndrome in a proband (when possible); 4.. Review management of Bardet-Biedl syndrome; 5.. Inform genetic counseling of family members of an individual with Bardet-Biedl syndrome.
摘要
本综述的目的是
- 描述巴德-比德尔综合征的临床特征；2. 回顾巴德-比德尔综合征的遗传病因；3. 提供一种评估策略，以确定先证者（如有可能）巴德-比德尔综合征的遗传病因；4. 回顾巴德-比德尔综合征的管理；5. 为巴德-比德尔综合征患者的家庭成员提供遗传咨询。
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