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Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome
Rett syndrome (RTT) is an X-linked progressive and severe neurological disorder caused by mutations in the gene encoding methyl CpG binding protein 2 (MECP2). Among the 49 typical RTT patients examined, we identified 10 novel and eight known insertion/deletion variants, and 31 known pathogenic varia...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804785/ https://www.ncbi.nlm.nih.gov/pubmed/31645986 http://dx.doi.org/10.1038/s41439-019-0078-2 |