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Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4
BACKGROUND: Coffin–Siris syndrome (CSS) is characterized by intellectual disability, dysmorphic facial features, growth deficiency, microcephaly, and abnormalities of the fifth fingers/toes. CSS is caused by mutations in several genes of the BRG1‐associated factor pathway including SMARCA4. METHODS:...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565552/ https://www.ncbi.nlm.nih.gov/pubmed/30973214 http://dx.doi.org/10.1002/mgg3.682 |