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MECP2 Duplication Syndrome in a Patient from Cameroon
MECP2 duplication syndrome (MDS; OMIM 300260) is an X-linked neurodevelopmental disorder, caused by nonrecurrent duplications of the Xq28 region involving the gene methyl-CpG-binding protein 2 (MECP2; OMIM 300005). The core phenotype of affected individuals includes infantile hypotonia, severe intel...
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| Publicado en: | Am J Med Genet A |
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| Autores principales: | , , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2020
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7450984/ https://ncbi.nlm.nih.gov/pubmed/32052928 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61510 |
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