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SMARCA4 inactivating mutations cause concomitant Coffin–Siris syndrome,microphthalmia and small‐cell carcinoma of the ovary hypercalcaemic type |
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| Authors: | Edoardo Errichiello Noor Mustafa Annalisa Vetro Lucia Dora Notarangelo Hugo de Jonge Berardo Rinaldi Debora Vergani Sabrina Rita Giglio Patrizia Morbini Orsetta Zuffardi |
| Affiliation: | 1. Department of Molecular Medicine, University of Pavia, Pavia, Italy;2. Unit of Paediatric Oncology, Spedali Civili di Brescia, Brescia, Italy;3. Department of Biomedical, Experimental and Clinical Sciences ‘Mario Serio’, Florence, Italy;4. Medical Genetic Unit, Meyer Children's University Hospital, Florence, Italy |
| Abstract: | |
| Keywords: | SMARCA4/BRG1 Coffin– Siris syndrome (CSS) microphthalmia intellectual disability small‐cell carcinoma of the ovary hypercalcaemic type (SCCOHT) SWI/SNF complex chromatin remodelling factors haploinsufficiency nonsense‐mediated mRNA decay (NMD) whole‐exome sequencing (WES) |