An Interstitial 17q11.2 de novo Deletion Involving the CDK5R1 Gene in a High-Functioning Autistic Patient

We describe a 32-year-old male patient diagnosed with high-functioning autism spectrum disorder carrying a de novo 196-kb interstitial deletion at chromosome 17q11.2. The deletion was detected by array CGH (180K Agilent) and confirmed by quantitative PCR on genomic DNA. The deleted region spans the...

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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Lintas, Carla, Sacco, Roberto, Tabolacci, Claudio, Brogna, Claudia, Canali, Marco, Picinelli, Chiara, Tomaiuolo, Pasquale, Castronovo, Paola, Baccarin, Marco, Persico, Antonio M.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2019
Assuntos:
Novel Insights from Clinical Practice
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6362853/
https://ncbi.nlm.nih.gov/pubmed/30733659
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000491802
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