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Clinical and Genetic Heterogeneity of the 15q13.3 Microdeletion Syndrome
The 15q13.3 microdeletion is a recurrent CNV, presumably mediated by NAHR between segmental duplications in chromosome 15. The 15q13.3 deletion and duplication are associated with a wide range of clinical manifestations, such as intellectual deficits, seizures, autism, language and developmental del...
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| Publicado en: | Mol Syndromol |
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| Autores principales: | , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
S. Karger AG
2016
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4772713/ https://ncbi.nlm.nih.gov/pubmed/26997942 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000443343 |
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