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Clinical and Genetic Aspects of the 15q11.2 BP1-BP2 Microdeletion Disorder
BACKGROUND: The 15q11.2 BP1-BP2 microdeletion (Burnside-Butler susceptibility locus) is an emerging condition with over 200 individuals reported in the literature. TUBGCP5, CFYIP1, NIPA1 and NIPA2 genes are located in this chromosome 15 region and when disturbed individually are known to cause neuro...
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| Publicado no: | J Intellect Disabil Res |
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| Autor principal: | |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5464369/ https://ncbi.nlm.nih.gov/pubmed/28387067 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jir.12382 |
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