Clinical differences in monozygotic twins with Rett syndrome: case report and systematic review
Abstract Background Rett Syndrome (RTT) is a rare, and severe neurodevelopmental disorder that primarily affects females and is primarily (> 96%) due to pathogenic loss-of-function genetic variants of methyl-CpG-binding protein 2 (MECP2). Despite the rarity of the syndrome, sporadic twin cases have...
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| Hoofdauteurs: | , , , , , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
BMC
2025-09-01
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| Reeks: | Orphanet Journal of Rare Diseases |
| Onderwerpen: | |
| Online toegang: | https://doi.org/10.1186/s13023-025-03935-6 |
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