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A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation
Nicolaides-Baraitser syndrome (NCBRS) is a rare and well-recognized entity that was first described in 1993, with a prevalence that is currently not known. It is recognized as a distinctive entity, with some variability in its signs and symptoms. The most important characteristics include intellectu...
| Autores principales: | , |
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| Format: | Online Artículo Texto |
| Sprog: | English |
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Hindawi
2017
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| Online adgang: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5602489/ https://www.ncbi.nlm.nih.gov/pubmed/28948053 http://dx.doi.org/10.1155/2017/8639617 |