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Article

MECP2 mutation spectrum and its clinical characteristics in a Chinese cohort.

Clinical genetics - 1 Sept 2020

Wen Yongxin, Wang Jiaping, Zhang Qingping, Chen Yan, Wu Xiru, Bao Xinhua

Abstract excerpt

The dysfunction of methyl-CpG-binding protein 2 (MeCP2) is associated with several neurological disorders, of which Rett syndrome (RTT) is the most prominent. This study focused on a Chinese patient cohort with MECP2 mutations, and analyzed the characteristics of these mutations and their clinical manifestations. In total, 666 patients were identified with 126 different MECP2 mutations, including 22 novel...

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Identifiers

PMID: 32472557
DOI: 10.1111/cge.13790

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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