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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...
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| Publicat a: | Clin Case Rep |
|---|---|
| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
John Wiley and Sons Inc.
2017
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5771875/ https://ncbi.nlm.nih.gov/pubmed/29375845 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1300 |
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