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MECP2 duplications in six patients with complex sex chromosome rearrangements
Duplications of the Xq28 chromosome region resulting in functional disomy are associated with a distinct clinical phenotype characterized by infantile hypotonia, severe developmental delay, progressive neurological impairment, absent speech, and proneness to infections. Increased expression of the d...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3060318/ https://ncbi.nlm.nih.gov/pubmed/21119712 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.195 |
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