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Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith–Magenis and Potocki–Lupski Syndromes
Smith–Magenis syndrome (SMS) and Potocki–Lupski syndrome (PTLS) are reciprocal contiguous gene syndromes within the well-characterized 17p11.2 region. Approximately 3.6 Mb microduplication of 17p11.2, known as PTLS, represents the mechanistically predicted homologous recombination reciprocal of the...
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| Veröffentlicht in: | J Pediatr Genet |
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| Hauptverfasser: | , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Georg Thieme Verlag KG
2015
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| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4918721/ https://ncbi.nlm.nih.gov/pubmed/27617127 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0035-1564443 |
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