Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report
Abstract Background Kabuki syndrome (KS) is a rare congenital condition with cardinal manifestations of typical facial features, developmental delays, skeletal anomalies, abnormal dermatoglyphic presentations, and mild to moderate intellectual disability. Pathogenic variants in two epigenetic modifi...
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| Principais autores: | , , , , |
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| Formato: | Livro |
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BMC,
2020-10-01T00:00:00Z.
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A1234.567 |
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