A likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser‐Winter syndrome
| Autor: | Ludovico Graziani, Giacomo Cinnirella, Valentina Ferradini, Chiara Conte, Federica Lo Bascio, Mario Bengala, Federica Sangiuolo, Giuseppe Novelli |
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| Rok vydání: | 2023 |
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| Zdroj: | American Journal of Medical Genetics Part A. 191:1565-1569 |
| ISSN: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.63157 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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