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RAI1 gene mutations: mechanisms of Smith–Magenis syndrome
Smith–Magenis syndrome (SMS; OMIM #182290) is a complex genetic disorder characterized by distinctive physical features, developmental delay, cognitive impairment, and a typical behavioral phenotype. SMS is caused by interstitial 17p11.2 deletions, encompassing multiple genes and including the retin...
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| Publicado no: | Appl Clin Genet |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Dove Medical Press
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5680963/ https://ncbi.nlm.nih.gov/pubmed/29138588 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S128455 |
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