Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome?

BACKGROUND: Copy number variations play a significant role in the aetiology of developmental disabilities including non-syndromic intellectual disability and autism. CASE PRESENTATION: We describe a 19-year old patient with intellectual disability and autism for whom chromosomal microarray (CMA) ana...

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Detalles Bibliográficos
Autores principales: Strunk, Daniela, Weber, Peter, Röthlisberger, Benno, Filges, Isabel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5135825/
https://www.ncbi.nlm.nih.gov/pubmed/27980676
http://dx.doi.org/10.1186/s13039-016-0299-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5135825/
https://www.ncbi.nlm.nih.gov/pubmed/27980676
http://dx.doi.org/10.1186/s13039-016-0299-8

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