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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...
| 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/PMC6900373/ https://www.ncbi.nlm.nih.gov/pubmed/31628733 http://dx.doi.org/10.1002/mgg3.1006 |