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Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation
BACKGROUND: Global developmental delay and mental retardation are associated with X-linked disorders including Hunter syndrome (mucopolysaccharidosis type II) and Fragile X syndrome (FXS). Single nucleotide mutations in the iduronate 2-sulfatase (IDS) gene at Xq28 most commonly cause Hunter syndrome...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3643848/ https://ncbi.nlm.nih.gov/pubmed/23634718 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-14-49 |
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