[雷特综合征：从病理生理学到治疗进展]。

IF 0.6 4区医学 Q3 MEDICINE, GENERAL & INTERNAL

Medicina-buenos Aires Pub Date : 2024-09-01

Ana M Cabal-Herrera, Christopher W Beatty

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引用次数: 0

摘要

雷特综合征（RTT）是一种主要影响女性的神经发育障碍，由 MECP2 基因的致病变异引起。该病具有发育倒退的特征，导致表达性语言、手部技能和行走能力受损，并伴有手部刻板印象。本文旨在概述该病的诊断、自然史和治疗方法。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

本刊更多论文

[Rett syndrome: from pathophysiology to developments in treatment].

Rett Syndrome (RTT) is a neurodevelopment disorder which primarily affects females and is caused by pathogenic variants in the MECP2 gene. The disease has a characteristic developmental regression resulting in impairment of expressive language, hand skills, and ambulation that is accompanied by hand stereotypies. The goal of this article it to provide an overview of the diagnosis, natural history, and treatment.

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