Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4
Abstract 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....
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| Principais autores: | , , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wiley
2019-06-01
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| coleção: | Molecular Genetics & Genomic Medicine |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1002/mgg3.682 |
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