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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Clin Case Rep
Hlavní autoři: Haug, Marte G., Brendehaug, Atle, Houge, Gunnar, Kagami, Masayo, Ogata, Tsutomu
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2017
Témata:
Case Reports
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky