Clinical characterization and structural modeling of a novel de novo SPTBN1 missense variant in a Chinese child
Abstract Background SPTBN1 encodes βII-spectrin, a cytoskeletal protein essential for neuronal structure and function. Pathogenic variants in this gene cause a neurodevelopmental disorder known as DDISBA (Developmental Delay, Impaired Speech, and Behavioral Abnormalities). To date, reports of SPTBN1...
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| Автори: | , , , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
BMC
2026-03-01
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| Серія: | BMC Pediatrics |
| Предмети: | |
| Онлайн доступ: | https://doi.org/10.1186/s12887-026-06741-6 |
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