Clinical cases series and pathogenesis of Lamb-Shaffer syndrome in China
Abstract Background Lamb-Shaffer syndrome (LAMSHF, OMIM: 616803) is a rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, which is attributed to haploinsufficiency by heterozygous variants of SOX5 gene (SRY-Box Transcription...
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| Autores principales: | , , , , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
BMC
2024-07-01
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| Colección: | Orphanet Journal of Rare Diseases |
| Materias: | |
| Acceso en línea: | https://doi.org/10.1186/s13023-024-03279-7 |
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