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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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Autores principales: Haug, Marte G., Brendehaug, Atle, Houge, Gunnar, Kagami, Masayo, Ogata, Tsutomu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
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.
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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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