P288: Mosaic genome-wide paternal uniparental isodisomy and PAH pathogenic variant identified in an infant with macrosomia, omphalocele, hepatomegaly and cardiac anomalies
| Autor: | Gilmartin, Allissia, Chao, Elizabeth, Singh, Kathryn, Gallant, Natalie |
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| Zdroj: | In Genetics in Medicine Open 2024 2 Supplement 1 |
| Databáze: | ScienceDirect |
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