微管蛋白病概述
Tubulinopathies Overview
作者信息
Bahi-Buisson Nadia, Maillard Camille
机构信息
Team Genetics and Development of the Cerebral Cortex, Imagine Institute, Université de Paris, Paris, France
PMID:27010057
Abstract
The purpose of this overview is to: 1.. Describe the clinical characteristics of tubulinopathies. 2.. Review the genetic causes of tubulinopathies. 3.. Review the differential diagnosis of tubulinopathies. 4.. Provide an evaluation strategy to identify the genetic cause of a tubulinopathy in a proband (when possible). 5.. Review general medical management of tubulinopathies. 6.. Inform genetic counseling of family members of an individual with a tubulinopathy.
摘要
本综述的目的是
- 描述微管蛋白病的临床特征。2. 回顾微管蛋白病的遗传病因。3. 回顾微管蛋白病的鉴别诊断。4. 提供一种评估策略，以确定先证者微管蛋白病的遗传病因（如果可能）。5. 回顾微管蛋白病的一般医疗管理。6. 为微管蛋白病患者的家庭成员提供遗传咨询。
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