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MECP2 duplication syndrome initially misdiagnosed as cerebral palsy: a case report
Mutations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene were first described as a cause of Rett syndrome. MECP2 duplication can cause intellectual disability, developmental delay, severe feeding difficulties, and recurrent infections. Here, we report a Korean family with MECP2 duplicatio...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
SAGE Publications
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10064467/ https://www.ncbi.nlm.nih.gov/pubmed/36988314 http://dx.doi.org/10.1177/03000605231162452 |