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De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome
BACKGROUND: Coffin–Siris syndrome is an extremely rare syndrome associated with developmental and congenital anomalies. It is caused by heterozygous pathogenic variants of ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1, and SOX11. METHODS: This case study presents the whole exome sequencing of a patient...
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| Publicado en: | Mol Genet Genomic Med |
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| Autores principales: | , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
John Wiley and Sons Inc.
2019
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6900373/ https://ncbi.nlm.nih.gov/pubmed/31628733 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1006 |
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