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Article

Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family.

BMC medical genetics - 15 Nov 2017

Li Xiaoyan, Xie Hua, Chen Qian, Yu Xiongying, Yi Zhaoshi, Li Erzhen, Zhang Ting, Wang Jian, Zhong Jianmin, Chen Xiaoli

Abstract excerpt

BACKGROUND: Chromosomal duplication at the Xq28 region including the MECP2 gene, share consistent clinical phenotypes and a distinct facial phenotype known as MECP2 duplication syndrome. The typical clinical features include infantile hypotonia , mild dysmorphic features, a broad range of neurodevelopmental disorders, recurrent infections, and progressive spasticity. METHODS: This Chinese MECP2 duplication...

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Source

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Identifiers

PMID: 29141583
DOI: 10.1186/s12881-017-0486-4
PMCID: PMC5688748

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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