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Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation
Duplications leading to functional disomy of chromosome Xq28, including MECP2 as the critical dosage-sensitive gene, are associated with a distinct clinical phenotype in males, characterized by severe mental retardation, infantile hypotonia, progressive neurologic impairment, recurrent infections, b...
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Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Elsevier
2012
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3383992/ https://ncbi.nlm.nih.gov/pubmed/22522176 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2012.02.009 |
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