22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening

BACKGROUND: Widespread use of microarray technology has led to increasing identification of 22q11.2 duplication syndrome (22q11.2DupS), the reciprocal syndrome of the well-characterized 22q11.2 deletion syndrome (22q11.2DS). Individuals with 22q11.2DS have elevated rates of community diagnoses of au...

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Detalhes bibliográficos
Publicado no:Mol Autism
Main Authors: Wenger, Tara L., Miller, Judith S., DePolo, Lauren M., de Marchena, Ashley B., Clements, Caitlin C., Emanuel, Beverly S., Zackai, Elaine H., McDonald-McGinn, Donna M., Schultz, Robert T.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4859984/
https://ncbi.nlm.nih.gov/pubmed/27158440
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13229-016-0090-z
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