The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2

Mutations in the X-linked gene MECP2 are associated with a severe neurodevelopmental disorder, Rett syndrome, primarily in girls. It had been suspected that mutations in MECP2 led to embryonic lethality in males, however such males have been reported. To enhance understanding of the phenotypic spect...

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Udgivet i:Am J Med Genet B Neuropsychiatr Genet
Main Authors: Neul, Jeffrey L., Benke, Timothy A., Marsh, Eric D., Skinner, Steven A., Merritt, Jonathan, Lieberman, David N., Standridge, Shannon, Feyma, Timothy, Heydemann, Peter, Peters, Sarika, Ryther, Robin, Jones, Mary, Suter, Bernhard, Kaufmann, Walter E., Glaze, Daniel G., Percy, Alan K.
Format: Artigo
Sprog:Inglês
Udgivet: 2018
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6488031/
https://ncbi.nlm.nih.gov/pubmed/30536762
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.b.32707
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