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Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilised DNA regions
Background: Sotos syndrome (SoS) is a disorder characterised by excessive growth, typical craniofacial features, and developmental retardation. It is caused by haploinsuffiency of NSD1 at 5q35. There is a 3.0 kb recombination hotspot in which the breakpoints of around 80% of SoS patients with a comm...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Group
2005
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1735942/ https://ncbi.nlm.nih.gov/pubmed/16272258 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.034355 |
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