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P192: Heterozygous ACTB pathogenic variant causing Baraitser-Winter syndrome presenting with tracheal ring, intestinal atresia, and neonatal diabetes
oleh: Jeremy Hill, Kathleen Shields, David Rodriguez-Buritica, Laura Farach, Paul Hillman
Format: | Article |
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Diterbitkan: | Elsevier 2023-01-01 |
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