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Inherited and de novo 22q11.2 distal duplications in two patients with autistic features, speech delay and no dysmorphology
In a screen of patients by fluorescence in-situ hybridization and array comparative genomic hybridization in the past two years (July 2007--July 2009), we identified two patients with duplications in the 22q11.22-23, occurring outside the common DiGeorge syndrome/valocardiofacial syndrome region. Fl...
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| Veröffentlicht in: | J Pediatr Genet |
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| Hauptverfasser: | , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Georg Thieme Verlag KG
2012
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5020930/ https://ncbi.nlm.nih.gov/pubmed/27625811 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-2012-019 |
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