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Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant
BACKGROUND: Rett syndrome (RTT) is a neurodevelopmental disorder that predominantly affects girls, resulting from a loss‐of‐function variant in X‐linked MECP2. Here, we report a rare case of a girl with RTT with an X chromosome mosaic karyotype (46,XX/47,XXX). METHODS: Fluorescent in situ hybridizat...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057091/ https://www.ncbi.nlm.nih.gov/pubmed/31943886 http://dx.doi.org/10.1002/mgg3.1122 |