Phenotypic features in MECP2 duplication syndrome: Effects of age

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 fe...

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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8000774/
https://ncbi.nlm.nih.gov/pubmed/33170557
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61956
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