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Development of an International Database for a Rare Genetic Disorder: The MECP2 Duplication Database (MDBase)
The natural history of MECP2 duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information is critical to the understanding of disease p...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9332564/ https://www.ncbi.nlm.nih.gov/pubmed/35892614 http://dx.doi.org/10.3390/children9081111 |