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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 |
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author | Haug, Marte G. Brendehaug, Atle Houge, Gunnar Kagami, Masayo Ogata, Tsutomu |
author_facet | Haug, Marte G. Brendehaug, Atle Houge, Gunnar Kagami, Masayo Ogata, Tsutomu |
author_sort | Haug, Marte G. |
collection | PubMed |
description | 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 imprinted disorders. |
format | Online Article Text |
id | pubmed-5771875 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-57718752018-01-26 Mosaic upd(14)pat in a patient with mild features of Kagami–Ogata syndrome Haug, Marte G. Brendehaug, Atle Houge, Gunnar Kagami, Masayo Ogata, Tsutomu Clin Case Rep Case Reports 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 imprinted disorders. John Wiley and Sons Inc. 2017-11-28 /pmc/articles/PMC5771875/ /pubmed/29375845 http://dx.doi.org/10.1002/ccr3.1300 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Reports Haug, Marte G. Brendehaug, Atle Houge, Gunnar Kagami, Masayo Ogata, Tsutomu Mosaic upd(14)pat in a patient with mild features of Kagami–Ogata syndrome |
title | Mosaic upd(14)pat in a patient with mild features of Kagami–Ogata syndrome |
title_full | Mosaic upd(14)pat in a patient with mild features of Kagami–Ogata syndrome |
title_fullStr | Mosaic upd(14)pat in a patient with mild features of Kagami–Ogata syndrome |
title_full_unstemmed | Mosaic upd(14)pat in a patient with mild features of Kagami–Ogata syndrome |
title_short | Mosaic upd(14)pat in a patient with mild features of Kagami–Ogata syndrome |
title_sort | mosaic upd(14)pat in a patient with mild features of kagami–ogata syndrome |
topic | Case Reports |
url | 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 |
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