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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Detalles Bibliográficos
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:
Case Reports
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

Internet

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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