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A case of Coffin–Siris syndrome with severe congenital heart disease and a novel SMARCA4 variant
Coffin–Siris syndrome (CSS) is a developmental disability, caused by genomic variants in the gene SMARCA4, in addition to other known genes, but the full spectrum of SMARCA4 variants that can cause CSS is unknown with 40% of cases not having molecular confirmation. In this report, we identify a pati...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cold Spring Harbor Laboratory Press
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549553/ https://www.ncbi.nlm.nih.gov/pubmed/31160358 http://dx.doi.org/10.1101/mcs.a003962 |