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Periventricular heterotopia and white matter abnormalities in a girl with mosaic ring chromosome 6
Ring chromosome 6 is a rare chromosome abnormality that arises typically de novo. The phenotypes can be highly variable, ranging from almost normal to severe malformations and neurological defects. We report a case of a 3-year-old girl with mosaic ring chromosome 6 who presented with being small for...
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| Publicat a: | Mol Cytogenet |
|---|---|
| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2015
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4514952/ https://ncbi.nlm.nih.gov/pubmed/26213576 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0162-3 |
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