Report on Witteveen-Kolk syndrome caused by large fragment deletion in the 15q24.1 - q24.2 region in infants with early onset and literature review
Abstract Background WITKOS is a rare neurodevelopmental disorder caused by heterozygous loss-of-function variants in the 15q24.1 - q24.2 region, includeing switch-insensitive 3 transcription regulator family member A (SIN3 A). Its incidence rate is extremely low. According to the current limited glo...
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| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-05-01
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| Series: | Italian Journal of Pediatrics |
| Online Access: | https://doi.org/10.1186/s13052-025-01971-3 |
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