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Coffin-Siris Syndrome: Phenotypic evolution of a novel SMARCA4 mutation
Coffin-Siris Syndrome (CSS) is an intellectual disability disorder caused by mutation of components of the SWI/SNF chromatin-remodeling complex. We describe the evolution of the phenotypic features for a male patient with CSS from birth to age 7 years and 9 months and by review of reported CSS patie...
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| Publicado no: | Am J Med Genet A |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5671763/ https://ncbi.nlm.nih.gov/pubmed/24700502 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36533 |
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