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Article

Phenotypic features in MECP2 duplication syndrome: Effects of age.

American journal of medical genetics. Part A - 1 Feb 2021

Peters Sarika U, Fu Cary, Marsh Eric D, Benke Tim A, Suter Bernard, Skinner Steve A, Lieberman David N, Standridge Shannon, Jones Mary, Beisang Arthur, Feyma Timothy, Heydeman Peter, Ryther Robin, Glaze Daniel G, Percy Alan K, Neul Jeffrey L

Abstract excerpt

BACKGROUND: MECP2 Duplication syndrome (MDS) is a rare X-linked genomic disorder that is caused by interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. Although phenotypic features in MDS have been described, there is a limited understanding of the range of severity of these features, and how they evolve with age. METHODS: The cross-sectional results of N = 69 participants (ages...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33170557
DOI: 10.1002/ajmg.a.61956
PMCID: PMC8000774

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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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