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Mosaic upd(14)pat in a patient with mild features of Kagami–Ogata syndrome
We report a Norwegian girl with mild clinical features of Kagami–Ogata syndrome (KOS) and mosaic upd(14)pat. To our knowledge, this is the first report describing a mosaic patient with KOS. These results imply that mosaic uniparental disomy should be examined in patients with mild features of imprin...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771875/ https://www.ncbi.nlm.nih.gov/pubmed/29375845 http://dx.doi.org/10.1002/ccr3.1300 |