Novel WAC gene variant identified in the first documented case of DeSanto-Shinawi Syndrome in India
Abstract Background DeSanto-Shinawi Syndrome (DESSH) is a rare neurodevelopmental disorder characterized by intellectual disability, behavioral abnormalities, and distinctive dysmorphic features, linked to likely pathogenic/pathogenic variants in the WAC gene. We report the first documented case of...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SpringerOpen
2025-05-01
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| Series: | Molecular and Cellular Pediatrics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s40348-025-00193-1 |
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