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- W3006619279 abstract "Abstract We describe a girl with clinical signs of cardiofaciocutaneous syndrome who simultaneously presents a mutation in the BRAF gene and a 9p24.3 microduplication. This genetic condition has never been described in the literature and could explain the phenotypic variability observed in the girl." @default.
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- W3006619279 date "2020-02-14" @default.
- W3006619279 modified "2023-09-26" @default.
- W3006619279 title "Cardiofaciocutaneous syndrome with rare structural variant in <i>DOCK8</i> gene associated with neurodevelopmental disorders" @default.
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- W3006619279 doi "https://doi.org/10.1002/ccr3.2729" @default.
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