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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Autores principales: Marshall, Lauren S, Simon, Julie, Wood, Tim, Peng, Mei, Owen, Renius, Feldman, Gary S, Zaragoza, Michael V
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2013
Materias:
Case Report
Acceso en línea: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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