Characterizing the Phenotypic Effect of Xq28 Duplication Size in MECP2 Duplication Syndrome

Individuals with MECP2 duplication syndrome (MDS) have varying degrees of severity in their mobility, hand use, developmental skills, and susceptibility to infections. In this study, we examine the relationship between duplication size, gene content, and overall phenotype in MDS using a clinical sev...

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Detalhes bibliográficos
Publicado no:Clin Genet
Main Authors: Peters, S.U., Fu, C., Suter, B., Marsh, E., Benke, T.A., Skinner, S. A., Lieberman, D.N., Standridge, S, Jones, M., Beisang, A., Feyma, T., Heydeman, P., Ryther, R., Kaufmann, W.E., Glaze, D.G., Neul, J.L, Percy, A.K.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6465105/
https://ncbi.nlm.nih.gov/pubmed/30788845
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13521
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