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Article

Expanding the clinical picture of the MECP2 Duplication syndrome.

Clinical genetics - 1 Apr 2017

Lim Z, Downs J, Wong K, Ellaway C, Leonard H

Abstract excerpt

Individuals with two or more copies of the MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype known as MECP2 Duplication syndrome. We have examined perinatal characteristics, early childhood development and medical co-morbidities in this disorder. The International Rett Syndrome Phenotype Database (InterRett), which collects information from caregivers and clinicians on...

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Source

Identifiers

PMID: 27247049
DOI: 10.1111/cge.12814

Genes

MECP2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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