Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence.

Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence.
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雷特综合征:建议的分期系统,用于描述随着年龄的增长而进入青春期的损伤情况。

DOI:
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发表时间:
1986
期刊:
American journal of medical genetics. Supplement
影响因子:
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通讯作者:
J. Reynolds
J. Reynolds
中科院分区:
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文献类型:
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作者:
B. Hagberg;I. Witt‐Engerström;J. M. Opitz;J. Reynolds

文献摘要

被引文献

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一个四阶段的建设是为了说明的特点,临床模式和配置文件多年来在平均,“经典”雷特综合征(RS)患者。该分期系统在29例瑞典RS病例中应用和评价,这些病例现已超过13岁(中位数18岁)。我们还讨论了我们遇到的诊断陷阱和需要在鉴别诊断中考虑的条件。
A four-stage construction is presented for illustrating the characteristic clinical pattern and profile over the years in the average, 'classical' rett syndrome (RS) patient. The staging system was applied and evaluated in the 29 Swedish RS cases who now have passed age 13 (median 18). We also discuss the diagnostic pitfalls we have met and the conditions that need to be considered in the differential diagnosis.