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A likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser-Winter syndrome |
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| Authors: | Ludovico Graziani Giacomo Cinnirella Valentina Ferradini Chiara Conte Federica Lo Bascio Mario Bengala Federica Sangiuolo Giuseppe Novelli |
| Institution: | 1. Department of Biomedicine and Prevention, University of Rome “Tor Vergata”, Rome, Italy;2. Tor Vergata University Hospital, Medical Genetics Unit, Rome, Italy;3. Department of Biomedicine and Prevention, University of Rome “Tor Vergata”, Rome, Italy
Tor Vergata University Hospital, Medical Genetics Unit, Rome, Italy |
| Abstract: | |
| Keywords: | ACTG1 Baraitser-Winter syndrome BRWS2 clinical exome sequencing |